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Amaç: Bu çalışmanın amacı, bir Histon Deasetilaz (HDAC) inhibitörü olan Sodyum Bütirat’ın(NaB) BACE1/501, BACE1/457 ve BACE1/432 gibi BACE1 izoformları ve hnRNP H, U2AF35, U2AF65, SRSF1, SRSF2, SRSF5 ve SRSF6 alternatif kırpılma faktörleri üzerindeki etkisini araştırmaktır. Gereç ve Yöntem: Bu çalışmada, SH-SY5Y hücreleri 1 mM ve 5 mM Na Bile muamele edilmiştir. Daha sonra BACE1 izoformları ve alternative kırpılma genlerinin ekspresyonlarındaki değişimleri değerlendirmek için Real-Time PCR yöntemi kullanılmıştır. Bulgular: 5 mM NaB konsantrasyonunda SRSF6, SRSF1, SRSF2, SRSF5 ve U2AF65 genlerinin ekspresyonlarında %35’ten %80’e kadar görece bir azalma olduğu belirlenmiştir. Ayrıca 5 Mm NaB BACE1/501, BACE1/457 ve BACE1/432 izoformlarının ekspresyonunu artırmıştır. NaB konsantrasyonu arttıkça, SRSF5 geninin ekspresyonu diğerlerinden daha fazla azalmıştır. Sonuç: Bulgularımızdan yola çıkılarak, U2AF65 ve SRSF6 genlerinin BACE1/457 ve BACE1/432 izoformlarının artışına diğer genlerden daha fazla katkı sağladığı sonucuna varılmıştır.

Purpose: Huntington's Disease (HD) is an autosomal dominant disorder affecting nervous system. CAG trinucleotide repeat (TNR) increase in Huntingtin gene causes the disease. In normal individuals, 10-35 TNRs are found whereas in HD this number exceeds 36-37. This study aimed to investigate TNR numbers in individuals with HD diagnosed family and to provide genetic counselling for individuals with abnormal alleles. Material and Methods: Subjects consist of family members of a male who died at age of 60 due to HD. Randomly selected 57 healthy individuals are also analysed for control. TNR numbers were determined by fragment analysis. Results: TNR numbers of family members were determined as 17, 21, 23, 25, 33, 36 and 39. TNR numbers of randomly selected healthy people were found below 26. Individuals with 33 and 36 TNRs were considered as risk groups. Individuals with 39 TNRs were considered as HD patients. Conclusion: Since some subjects had 39 TNRs, it was emphasized that these people should be under physician control. Prenatal diagnosis is recommended to those who plan to have children. In addition, subjects with 33 and 36 CAG trinucleotide repeats are advised to inform new generations about HD and that they may be affected in future. Cukurova University Research Fund. Project no: TF2013BAP4

Canlilari her yonu ile inceleyen Biyoloji oldukca genis kapsamli bilimlerden biridir. Bu durum goz onune alinarak kitap, ozellikle insan ve hayvan sagligi alaninda onemi olan temel biyoloji konulari ile sinirli tutulmustur. Universitelerde, ozellikle Biyolojik Bilimlere dayali fakultelerde, verilen “Tibbi Biyoloji ve Genetik” derslerinin icerikleri, fakultelere gore kismen degismekle birlikte son yillarda birbirine cok yaklasmistir. Ders konulari canlinin kokeni, cevre ile iliskileri, molekuler hucre biyolojisi ve genetik konularinda yogunlasan genel bir cerceveye oturtulmustur. Kitabin konu bolumleri de bu genel cerceveye uygun olarak planlanmistir. Ilk 10 bolumde, canlinin kokeni ve evrimi, cevre biyolojisi, hucresel organizasyon ve molekuler biyolojisi, hucrenin bolunup cogalmasi, ureme ve gelisme konularini iceren bilgiler verilmistir. Kalan 14 bolumde ise bu temel tibbi biyoloji konulari uzerine, cagimizin arastirmaya en acik alani olan molekuler genetik, sitogenetik, prokaryot ve okaryotlardaki kalitim ilkeleri, genetik danisma, immunogenetik, onkogenetik, populasyon genetigi ve evrimsel genetik konularina yer verilmistir.

Aim To determine how daylight exposure in mice affects melatonin protein expression in blood and Kiss1 gene expression in the hypothalamus. The second aim was to assess the relationship between skin cancer formation, daylight exposure, melatonin blood level, and kisspeptin gene expression level. Methods New-born mice (n=96) were assigned into the blind group or daylight group. The blind group was raised in the dark and the daylight group was raised under 12 hours light/12 hours dark cycle for 17 weeks. At the end of the 11th week, melanoma cell line was inoculated to mice, and tumor growth was observed for 6 weeks. At the end of the experiment, melatonin level was measured from blood serum and Kiss1 expression from the hypothalamus. Results The blind group had significantly higher melatonin and lower Kiss1 expression levels than the daylight group. Tumor volume was inversely proportional to melatonin levels and directly proportional to Kiss1 expression levels. Tumor growth speed was lower in the blind than in the daylight group. Conclusion Melatonin and Kiss1 were shown to be nvolved in tumor suppression. They were affected by daylight and were mutually affected by each other.

Amaç: Huntington Hastalığı (HD), sinir sistemini etkileyen otozomal dominant bir hastalıktır. Huntingtin genindeki CAG trinükleotit tekrarı (TNR) artışı hastalığa neden olur. Normal bireylerde 10-35 TNR bulunurken HD'de bu sayı 36-37'yi aşmaktadır. Bu çalışmada, HD tanılı ailede TNR sayılarının araştırılması ve anormal alleli olan bireyler için genetik danışmanlık yapılması amaçlanmıştır.Gereç ve Yöntem: Örnekler, HD nedeniyle 60 yaşında ölen bir erkeğin aile üyelerinden oluşmaktadır. Rastgele seçilen 57 sağlıklı birey de kontrol için analiz edilmiştir. TNR sayıları fragman analizi ile belirlenmiştir.Bulgular: Aile bireylerinin TNR sayıları 17, 21, 23, 25, 33, 36 ve 39 olarak belirlendi. Rastgele seçilmiş sağlıklı kişilerin TNR sayıları 26'nın altında bulundu. 33 ve 36 TNR'li bireyler risk grubu olarak kabul edildi. 39 TNR'li bireyler HD’ye sahip olarak kabul edildi.Sonuç: Bazı deneklerin 39 TNR'si olduğundan, bu kişilerin hekim kontrolünde olması gerektiği vurgulanmıştır. Çocuk sahibi olmayı planlayanlara prenatal tanı önerilmektedir. Ek olarak, 33 ve 36 CAG trinükleotid tekrarı olan deneklerin, HD ile ilgili yeni nesilleri bilgilendirmeleri ve gelecekte kendilerinin de etkilenebilecekleri bildirilmektedir., Purpose: Huntington's Disease (HD) is an autosomal dominant disorder affecting nervous system. CAG trinucleotide repeat (TNR) increase in Huntingtin gene causes the disease. In normal individuals, 10-35 TNRs are found whereas in HD this number exceeds 36-37. This study aimed to investigate TNR numbers in individuals with HD diagnosed family and to provide genetic counselling for individuals with abnormal alleles.Materials and Methods: Subjects consist of family members of a male who died at age of 60 due to HD. Randomly selected 57 healthy individuals are also analysed for control. TNR numbers were determined by fragment analysis.Results: TNR numbers of family members were determined as 17, 21, 23, 25, 33, 36 and 39. TNR numbers of randomly selected healthy people were found below 26. Individuals with 33 and 36 TNRs were considered as risk groups. Individuals with 39 TNRs were considered as HD patients.Conclusion: Since some subjects had 39 TNRs, it was emphasized that these people should be under physician control. Prenatal diagnosis is recommended to those who plan to have children. In addition, subjects with 33 and 36 CAG trinucleotide repeats are advised to inform new generations about HD and that they may be affected in future.

Purpose: This paper presents the results of an entomological survey in an endemic focus of cutaneous leishmaniasis in Karaisali province of Adana in Turkey. Materials and Methods: There were two field works in two consecutive years (2013 and 2014), which 1088 sand fly specimens were captured using 136 light traps which were conducted in 11 villages of Karaisali located in southwest part of Adana. Results: Totally, six Phlebotomus species were described: Phlebotomus tobbi (41.54%), Phlebotomus neglectus/syriacus (9.74%), Phlebotomus papatasi (25.18%), Phlebotomus perfiliewi (3.49%), Sergentomyia dentata (18.38%) and Sergentomyia theodori (1.65%). The female/male rate was found to be 1.98. Phlebotomus tobbi, Phlebotomus papatasi, Phlebotomus neglectus/syriacus, Sergentomyia dentata and Sergentomyia theodori were dominant at 201-400m, 0-200m, 801-1000m, 401-600m and 601-800m respectively. Conclusion: Environmental and climatic factors were compared for the presence of sand flies species especially vectors of cutaneous leishmaniasis by univariate binary regression analysis in PASW. Sand fly density maps were generated based on the elevation they were caught by using ARCMAP 10.2. The data also revealed a relationship between presence of the probable vector sand flies and several environmental factors such as altitude, temperature, trap location and humidity in Karaisali Amaç: Bu çalışmanın amacı, bir endemik bölge olan Adana'nın Karaisalı ilçesindeki kutanöz leishmaniasisin endemik odaklı entomolojik bir araştırmasının sonuçlarını sunmaktır. Gereç ve Yöntem: Adana'nın güneybatısında bulunan Karaisalı'nın 11 köyünde İki yıl üst üste iki alanda (2013 ve 2014), 136 ışık tuzağı kullanılarak 1088 kum sineği örneği toplanmış, saha ile ilgili çevresel veriler kaydedilmiştir. Ayrıca Örnek toplanan alanlardaki çevresel ve iklimsel faktörler, vektör kum sineklerinin varlığı ile PASW'da tek değişkenli ikili regresyon yöntemi kullanılarak karşılaştırma yapıldı. Kum sineklerinin dağılım haritaları, ARCMAP 10.2 kullanılarak yakalandıkları yükseklere bağlı olarak oluşturuldu. Bulgular: Toplanan örneklerin türleri; Phlebotomus tobbi % 41,54), Phlebotomus neglectus/syriacus (% 9,74), Phlebotomus papatasI % 25,18), Phlebotomus perfiliewi (% 3.49), Sergentomyia theodori (% 10,56) ve Sergentomyi adentata(% 9,46) olarak belirlenmiştir. Erkek/dişi oranı ise 1.89 olarak bulunmuştur. Phlebotomus.tobbi, Phlebotomus papatasi, Phlebotomus neglectus/syriacus, Sergentomyia ia dentata ve Sergentomyia theodori sırasıyla 201-400m, 0-200m, 801-1000m, 401-600m ve 601-800m yüksekliklerde baskın t ürler olarak belirlenmiştir. Sonuç: Veriler, muhtemel vektör kum sineklerinin varlığı ile Karaisalı'da yükseklik, sıcaklık, tuzak konumu ve nem gibi birkaç çevresel faktör arasında bir ilişki olduğunu ortaya koymuştur.

PubMedID: 26336206 Leishmaniasis, presenting in two clinical forms, cutaneous and visceral in Turkey, is widespread in most of the countries in the Mediterranean Basin. An average of 10 to 13% of cases are reported from Adana every year. This paper presents the results of an entomological survey in an endemic focus of cutaneous leishmaniasis in Imamoglu province of Adana in Turkey. We collected 654 sand fly specimen using 100 light traps in 20 nights in August 2013 and July 2014. Several keys and previous drawings were used in the identification of the species. In total, six Phlebotomus species were identified; Phlebotomus tobbi (50.3%), Phlebotomus papatasi (34%), Phlebotomus perfiliewi (2.9%), Phlebotomus sergenti (0.4%), Phlebotomus neglectus/syriacus (0.8%), and Sergentomyia spp. (11.5%). In addition, the female/male rate was found to be 0.84. Collected sand flies (44 pools of 1-10 individuals) were analyzed microscopically, and no promastigotes were found in the midgut specimens. Using a genus specific real time-polymerase chain reaction (PCR) assay for simultaneous detection of Old Word Leishmania. We detected only 3 of the 44 pools with Leishmania by genus-specific real-time PCR assay. P. tobbi was found to be dominant species in spite of the differences in sand fly fauna composition. To the best of our knowledge, this is the first study for sand fly fauna including 15 villages where endemic focus of cutaneous leishmaniasis in Imamoglu, Adana Province, Turkey. © The Authors 2015.

PubMedID: 28634058 Perfluorinated compounds (PFCs) such as PFOS and PFOA, are xenobiotics that can be detected worldwide in the environment and humans. PFOS (C8F17SO3 -) is a fluorinated organic compound has been used for decades in industrial and commercial products. We investigated the genotoxic and apoptotic impact of PFOS in rat liver using comet assay, micronucleus test and apoptotic gene expression methods for caspase 3, caspase 8 and the protective role of curcumin on the PFOS- induced damage under chronic exposure. In this study, rats were treated either with three different PFOS doses only (0.6, 1.25 and 2.5 mg/kg) or one dose of curcumin (80 mg/kg) or three different doses of PFOS combined with 80 mg/kg dose of curcumin by gavage for 30 days at 48 h intervals. We evaluated the DNA damage via comet assay and micronucleus test. Doses of PFOS increased micronucleus frequency (p

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling

Objectives: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) is a newly defined disease in neuropsychiatry and occurs with an autoimmune mechanism after Group A Beta Hemolytic Streptococcus (GABHS) infection. Tumor necrosis factor (TNF), encoded by TNF-α gene has an important role in the apoptotic mechanisms of autoimmune diseases. Recently, TNF-α polymorphisms and autoimmune/psychiatric disorders have been reported to be related. In this regard, we focused on to investigate a possible relation between the TNF-α gene promoter region−308 G/A and − 850 C/T polymorphisms and PANDAS. Materials and Methods: In this study, ages of PANDAS patient and control groups were ranging from 4 years to 12-year-old. Patient group includes childhood onset PANDAS patients ( n = 42) and control group includes healthy children ( n = 58). Diagnoses have been carried out according to Diagnostic and Statistical Manual of Mental Disorder (DSM-IV) criteria with Affective Disorders and Schizophrenia-Present and Lifetime (KSAD-S-PL) and Children Yale-Brown Obsessive Compulsive Scale Moreover, PANDAS criteria established by the American National Psychiatry Institute have been employed for diagnoses. For identifying polymorphisms; Polymerase Chain Reaction, Restriction Fragment Length Polymorphism and Polyacrylamid Gel Electrophoresis were used. Results and Discussion: For −308 polymorphism, 37 of 42 PANDAS patients' results and for −850 C/T polymorphism, 38 of 42 PANDAS patients' results were obtained. According to our statistical analysis there is a positive relationship between PANDAS patients for −308 G/A polymorphism but not for −850 C/T polymorphism. There is no positive relationship between −308 G/A polymorphism and antistrep-tolysin O (ASO) titers and no relationship between −850 C/T polymorphism and ASO titers. We found, however, positive relationship between genders of patients (boys) and the disease. According to our results, we propose that the AA polymorphism of −308 G/A polymorphism can be used as a molecular indicator for PANDAS.

Amaç: Fenilketonüri, hepatik bir enzim olan fenilalanin hidroksilazın otozomal resesif bozukluğu sonucu ortaya çıkan bir durumdur. Bu çalışmada, Türk popülasyonunda en sık görülen fenilalanin hidroksilaz geni mutasyonlarını belirlemek amaçlandı. Gereç ve Yöntem: Öncelikle tüm ekson bölgeleri DHPLC metodu kullanılarak tarandı. Ardından mutasyon şüphesi taşıyan örnekler sekanslama ve ARMS yöntemleri kullanılarak analiz edildi.Bulgular: IVS10-11ga splayzing mutasyonu 27 allelde (%58,7), R261Q mutasyonu 7 allelde (%15,2) ve E178G, P281L, R243X, R243Q, R408W, Y386C mutasyonları ise 2’şer allelde (%4,3) tespit edildi.Sonuç: R243X, R243Q, R261Q ve R408W mutasyonlarının oluştuğu 7 ve 12’inci ekson bölgelerinde arginin aminoasidinin değişimi Çukurova bölgesindeki fenilketonüri hastalarında fenilalanin hidroksilaz geni mutasyonlarında önemli bir yer tutmaktadır (%68,4). IVS10-11ga ve P281L gibi tek baz mutasyonları bizim tarafımızdan dizayn edilmiş primerler ve ARMS tekniği kullanılarak daha ucuza, daha az teknik ekipmanla ve %100 doğrulukla tespit edilebilmektedir., Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed.Material and Methods: 23 unrelated phenylketonuria patients (46 alleles) who are living in Cukurova region, Turkey were investigated.First, all exons were screened by using DHPLC method then the direct sequencing technique and ARMS methods were used to analyze mutation suspected samples.Results: IVS10-11g®a splicing mutation in 27 alleles (58.7%), R261Q mutation in 7 alleles (15.2%) and E178G, P281L, R243X, R243Q, R408W, Y386C mutations, all in a frequency of 2/46 (4.3%) is found.Conclusion: The arginine amino acid, accounting for 68.4% of changes in exon sites 7 and 12, where R243X, R243Q, R261Q and R408W mutations occur, is thought to be important for amino acid changes in phenylalanine hydroxylase gene among phenylketonuria patients in Çukurova region. Single-base mutations like IVS10-11g®a and P281L could be detected with an accuracy of 100% by the use of specifically designed primers by authors according to ARMS technique and it is relatively cheaper and requesting less technical equipment.

Amaç: Fenilketonüri, hepatik bir enzim olan fenilalanin hidroksilazın otozomal resesif bozukluğu sonucu ortaya çıkan bir durumdur. Bu çalışmada, Türk popülasyonunda en sık görülen fenilalanin hidroksilaz geni mutasyonlarını belirlemek amaçlandı. Gereç ve Yöntem: Öncelikle tüm ekson bölgeleri DHPLC metodu kullanılarak tarandı. Ardından mutasyon şüphesi taşıyan örnekler sekanslama ve ARMS yöntemleri kullanılarak analiz edildi. Bulgular: IVS10-11g->a splayzing mutasyonu 27 allelde (%58,7), R261Q mutasyonu 7 allelde (%15,2) ve E178G, P281L, R243X, R243Q, R408W, Y386C mutasyonları ise 2'şer allelde (%4,3) tespit edildi. Sonuç: R243X, R243Q, R261Q ve R408W mutasyonlarının oluştuğu 7 ve 12'inci ekson bölgelerinde arginin aminoasidinin değişimi Çukurova bölgesindeki fenilketonüri hastalarında fenilalanin hidroksilaz geni mutasyonlarında önemli bir yer tutmaktadır (%68,4). IVS10-11g->a ve P281L gibi tek baz mutasyonları bizim tarafımızdan dizayn edilmiş primerler ve ARMS tekniği kullanılarak daha ucuza, daha az teknik ekipmanla ve %100 doğrulukla tespit edilebilmektedir Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods: 23 unrelated phenylketonuria patients (46 alleles) who are living in Cukurova region, Turkey were investigated.First, all exons were screened by using DHPLC method then the direct sequencing technique and ARMS methods were used to analyze mutation suspected samples. Results: IVS10-11g->a splicing mutation in 27 alleles (58.7%), R261Q mutation in 7 alleles (15.2%) and E178G, P281L, R243X, R243Q, R408W, Y386C mutations, all in a frequency of 2/46 (4.3%) is found. Conclusion: The arginine amino acid, accounting for 68.4% of changes in exon sites 7 and 12, where R243X, R243Q, R261Q and R408W mutations occur, is thought to be important for amino acid changes in phenylalanine hydroxylase gene among phenylketonuria patients in Çukurova region. Single-base mutations like IVS10-11g->a and P281L could be detected with an accuracy of 100% by the use of specifically designed primers by authors according to ARMS technique and it is relatively cheaper and requesting less technical equipment

Methylation is a chemical reaction in biological systems for normal genome regulation and development. It is a well known type of epigenetic mechanism. Methylation which regulates gene expression via epigenetic events like gene activation, repression, and chromatin remodelling, consists of two methylation systems. One of these systems is DNA methylation whereas the other is protein (histone) methylation. These systems are associated with some fundamental abnormalities and diseases. This review highlights the role of methylation in normal genome function, how it can be arranged and which diseases it cause. Furthermore, the role of methylation in some diseases and its functions in epigenetic mechanism has been reviewed. [Archives Medical Review Journal 2012; 21(4.000): 274-282]

PubMedID: 21948762 Many clinical conditions, including osteoporosis, are associated with serum levels of sex steroids. Enzymes that regulate rate-limiting steps of steroidogenic pathways, such as CYP17 and CYP19, are also regarded as significant factors that may cause the development of these conditions. We investigated the association of two common polymorphisms, in the promoter region (T›C substitution) of CYP17 and exon 3 (G›A) of CYP19, with bone mineral density (BMD) in the lumbar spine and femoral neck and serum androgen/estradiol, in a case-control study of 172 postmenopausal women aged 62.3 ± 9.6 years (mean ± SD). The CYP17 TC genotype was significantly overrepresented in patients compared to controls, and TC genotype neck T-score and lumbar T-score values were significantly higher in patients compared to controls. CYP17 TC and TT genotype testosterone and DHEA-SO4 levels were lower in patients compared to controls. All three genotypes of CYP19 had almost the same distribution among patients. The CYP19 AG genotype, however, was most frequent among controls. CYP19 lumbar BMD levels were close to each other among the different genotypes; however, AA and AG genotypes were significantly lower in patients. Testosterone and DHEA-SO4 levels in the CYP19 GG genotype were higher compared to those of the other genotypes in patients but not in controls. CYP19 GA individuals had lower E2 levels and lower BMD in controls and patients. Femoral neck BMD and lumbar T-score were also diminished with GA transition. In conclusion, CYP17 and CYP19 gene polymorphisms were found to be associated with osteoporosis in postmenopausal women in Turkey, ©FUNPEC-RP.

Amac: Bu calismanin amaci, bir endemik bolge olan Adana'nin Karaisali ilcesindeki kutanoz leishmaniasisin endemik odakli entomolojik bir arastirmasinin sonuclarini sunmaktir. Gerec ve Yontem: Adana'nin guneybatisinda bulunan Karaisali'nin 11 koyunde Iki yil ust uste iki alanda (2013 ve 2014), 136 isik tuzagi kullanilarak 1088 kum sinegi ornegi toplanmis, saha ile ilgili cevresel veriler kaydedilmistir. Ayrica Ornek toplanan alanlardaki cevresel ve iklimsel faktorler, vektor kum sineklerinin varligi ile PASW'da tek degiskenli ikili regresyon yontemi kullanilarak karsilastirma yapildi. Kum sineklerinin dagilim haritalari, ARCMAP 10.2 kullanilarak yakalandiklari yukseklere bagli olarak olusturuldu. Bulgular: Toplanan orneklerin turleri; Phlebotomus tobbi % 41,54), Phlebotomus neglectus/syriacus (% 9,74), Phlebotomus papatasI % 25,18), Phlebotomus perfiliewi (% 3.49), Sergentomyia theodori (% 10,56) ve Sergentomyi adentata(% 9,46) olarak belirlenmistir. Erkek/disi orani ise 1.89 olarak bulunmustur. Phlebotomus.tobbi, Phlebotomus papatasi, Phlebotomus neglectus/syriacus, Sergentomyia ia dentata ve Sergentomyia theodori sirasiyla 201-400m, 0-200m, 801-1000m, 401-600m ve 601-800m yuksekliklerde baskin t urler olarak belirlenmistir. Sonuc: Veriler, muhtemel vektor kum sineklerinin varligi ile Karaisali'da yukseklik, sicaklik, tuzak konumu ve nem gibi birkac cevresel faktor arasinda bir iliski oldugunu ortaya koymustur.

COPD is a leading cause of morbidity and mortality among the adult population. The major risk factor of COPD is, undoubtedly, cigarette smoking. In a significant proportion of smokers clinically significant airflow obstruction develops. Exogenous factors outside the meeting, increasing susceptibility to disease and genetic factors in the development of the disease is thought to play an important role.Apart from the contribution by the well-recognized α-1 antitrypsin deficiency, the genetic basis of COPD is poorly understood. However, many genes are thought to be associated with COPD. The most important ones are α-1-antitrypsin (AAT), α-1-antichymotrypsin (AACT), matrix metalloproteinase (MMP), microsomal epoxide hydrolase (EPHX1), glutathione S-transferase (GST), tumor necrosis factor-α (TNF ) and transforming growth factor beta (TGFβ). [Archives Medical Review Journal 2010; 19(3.000): 168-179]

MTHFR (Methylenetatrahydrofolate reductase) is one of the most important enzymes because of its function about folate metabolism and DNA synthesis nucleotide polymorphism in the gene encoding the enzyme, have been associated with many diseases including prostate cancer. We aimed to evaluate the association between the polymorphism and prostate cancer by comparing the results between patients and controls, MTHFR (Metilentetrahidrofolatredüktaz), folat metabolizması ve DNA sentez yolağındaki kilit rolü sebebiyle en önemli enzimlerden biridir. Enzimi kodlayan gendeki C677T tek nükleotid polimorfizmi, prostat kanseri de dahil olmak üzere birçok hastalıkla ilişkilendirilmiştir. Çalışmanın amacı, ilgili polimorfizmin, prostat kanseri teşhisi konmuş hasta ve sağlıklı kontrol bireyler arasında kıyaslanarak, hastalık ile ilişkisinin değerlendirilmesidir. Çalışmaya, 20 prostat kanseri teşhisi konmuş hasta ve herhangi bir patolojisi saptanmamış 20 sağlıklı birey dahil edilmiştir. İlk olarak, bu bireylerden alınan kan örneklerinden DNA’ları izole edildi. İlgili polimorfizmin bulunduğu bölge Polimeraz Zincir Reaksiyonu (PCR) ile çoğaltıldıktan sonra, uygun restriksiyon enzimi aracılığıyla, Restriksiyon Parça Uzunluk Polimorfizmi (RFLP) yöntemi ile kesildi. Daha sonra Poliakrilamid Jel Elektroforezi tekniği ile örnekler yürütüldü ve jel görüntülenerek oluşan bantlar yorumlandı.Sonuçlar, MTHFR C677T polimorfizm genotipleri açısından değerlendirildiğinde, çalışmaya dâhil ettiğimiz hasta bireylerin %60’inde CC (homozigot normal), %40’inde CT (heterozigot mutant); sağlıklı bireylerin ise %60’ında CC, %35’inde CT ve %5’inde TT (homozigot mutant) genotipi olduğu tespit edilmiştir.Sonuç olarak, MTHFR 677TT genotipinin prostat kanseri için koruyucu etki gösterdiği tespit edilmiştir.Anahtar Kelimeler: MTHFR C677T, prostat kanseri, polimorfizm.

5,10-Methlenetetrahydrofolate reductase (MTHFR) is one of the most important enzymes for folic acid metabolism. This protein\'s gene is mapped on chromosome 1, which is located at the end of the short arm (1p36.3). MTHFR enzyme plays a key role in cell metabolism including folic acid and nucleotide synthesis (DNA, RNA). Polymorphism is also a factor in biodiversity, and is different according to ethnic heritage and racial. The 677 C>T is also MTHFR polymorphisms that decrease MTHFR enzyme activity. The aim of this study is to compile studies are associated with MTHFR C677T polymorphism. PUBMED, Turk Biochemistry and Jornal of Clinical & Experimental Investigations were searched to develop an investigatory pursuit strategy. MTHFR, Turkish population, 677 C>T and polymorphisms were key words including “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” used to focus the search. The literature review included all published relevant Turkish population and MTHFR polymorphisms for that all of study. The data of selected polymorphism for Turkish population was listed in tables for easy access and retrieval., 5,10-Metilentetrahidrofolat redüktaz (MTHFR) folik asit metabolizması için en önemli enzimlerden biridir. Bu proteinin geni 1 numaralı kromozomun kısa kolunda (1p36.3) haritalanmıştır. MTHFR enzimi, folik asit, nükleotid sentezi (DNA, RNA) gibi pek çok reaksiyonu içeren hücre metabolizmasında, kilit rol oynar. Polimorfizmler etnik kökene ve ırklara göre farklılık gösteren ve biyoçeşitlilikte rol oynayan bir faktördür. MTHFR 677 C>T polimorfizmi enzim aktivitesini azaltan bir polimorfizmdir. Çalışmanın amacı, Türkiye\'de MTHFR C677T polimorfizmi ile ilgili olan çalışmaları derlemektir. Bu nedenle, Türkiye\'de yapılmış MTHFR 677 C>T polimorfizmi ile ilgili PUBMED, Türk Biyokimya ve Klinik & Deneysel Araştırmalar dergisinde yayınlanmış bütün çalışmalar derlenmiştir. Araştırma yapılırken “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” anahtar kelimeleri kullanılmıştır. Bu çalışmalar, belli başlı hastalık gruplarına göre sınıflandırılmış ve tablolar halinde okuyucunun değerlendirmesine sunulmuştur.

Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain, regulation of gonadotropin secretion and sexual interest in adults. Our goal is to determine the developmental mRNA expression patterns of aromatase, estrogen receptor alpha (Esr1) and progesterone receptor (Pgr) in the fetal mouse brain at different times of gestation. Methods: Female mice were mated with fertile males and checked for vaginal plug the next day to confirm successful mating (vaginal plug=day 1 of pregnancy). At gestational days 9-12-15-17-19-21 pregnant mice were sacrificed and fetal brains were removed and mRNAs were isolated and reverse transcribed into cDNAs. In order to evaluate mRNA expression levels, real time PCR was performed employing primers for Cyp19a1, Esr1 and Pgr genes. Results: In our studies, Esr1 and Pgr mRNA expression levels peaked at day 9 and returned to normal adult levels at around day 17-18. Cyp19a1 mRNA expression peaked at day 14-16 along with a drastic decrease in Esr1 and Pgr mRNA expression levels and then returned to normal adult levels around the time of delivery. Conclusion: Cyp19a1 expression in the fetal brain launches around gestational day 11-12 and peaks around gestational day 14-16 and fall back to normal adult levels at around gestational day 19-20. It has been recently reported that Esr1 and Pgr both mediate Cyp19a1 mRNA expression in the mouse brain. Together with these previous reports, our findings may imply that both Esr1 and Pgr possibly play a role in the developmental regulation of aromatase in the fetal mouse brain., Amaç: Bu çalışmadaki amacımız, gonodotropin salgılanması, cinsel dimorfik fetal beyin gelişimi ve yetişkinlerdeki cinsel tercih için çok önemli olan, aromatazın ve östrojen reseptör alfa (Esr1) ve progesteron reseptörlerinin (Pgr) gebeliğin farklı dönemlerindeki mRNA ekspresyon profillerinin eş zamanlı olarak belirlenmesidir. Yöntem: Dişi fareler, üreme potansiyeli olan erkek farelerle çiftleştirildi ve başarılı çiftleşme, bir gün sonra oluşan vajinal plak kontrol edilerek doğrulandı (vajinal plak=gebeliğin birinci günü). Gebeliğin 9-12-15-17-19-21. günlerinde gebe farelerin yaşamları sonlandırıldı ve fetüslere ait beyinler çıkarılarak mRNA izole edildi ve cDNA haline çevrildi. mRNA ekspresyon düzeylerinin belirlenmesi Cyp19a1, Esr1 ve Pgr genlerine özgün primerler ile real time PCR yöntemi kullanılarak gerçekleştirildi. Bulgular: Çalışmalarımızda; Esr1 ve Pgr mRNA ekspresyon düzeyleri 9. günde tepe noktaya ulaştı, 17-18. günlerde ise normal yetişkin düzeylerine döndü. Cyp19a1 mRNA ekspresyonu, Esr1 ve Pgr mRNA düzeylerindeki ciddi bir azalmayla beraber, 15-16. günde tepe noktaya ulaştı ve takriben doğumun olacağı dönemlerde normal erişkin seviyelerine indi. Sonuç: Fetal beyinde Cyp19a1 ekspresyonu gebeliğin 11-12. günü civarında başlar ve 15-16. günlerinde tepe noktasına ulaşır. Bunu takiben 19-20. günlerinde de normal yetişkin seviyelerine iner. Son zamanlarda rapor edilen çalışmalarda, Esr1 ve Pgr"nin fare beyninde Cyp19a1 mRNA ekspresyonunun düzenlenmesinde rol oynadığı belirtilmiştir. Bu çalışmalar ışığında bizim bulgularımız, Esr1 ve Pgr"nin fetal fare beyninde aromataz ekspresyonun düzenlenmesinde rol oynadığını düşündürebilir.

PURPOSE: Amniocentesis is a very crucial diagnostic procedure for preventing the birth of genetically defective fetuses in order to decrease the prevalence of genetic diseases in populations. METHODS: The karyotyping of 4707 fetuses was carried out in our department during the years of 2000-2009 from the samples of amniotic fluids, CVS, fetal tissues and urines which were sent from departments of Gynecology and Obstetrics of Balcali Hospital and other regional hospitals. RESULTS: The mean maternel and gestational age of pregnant women evaluated for prenatal diagnosis were 29.1 years of age and 18.8 months respectively. Among 4707 fetuses that were karyotyped; 2284 fetuses were males and 2205 fetuses were females and 218 (4.63%) fetuses had various chromosomal abnormalities. Consequently, male to female ratio of fetuses that were examined was 1.03. The advanced maternal age pregnancies followed by positive triplescreening were related to the highest rate of chromosomal abnormalities. The mean age of pregnant women having fetuses with chromosomal abnormalities was found to be 33 years of age which suggest that fetal chromosomal abnormalities were associated with maternal age. Numerical chromosomal abnormalities predominated the structural chromosomal abnormalities (55.5% vs to 44.5%). The numerical chromosomal abnormalities with an incidence of 47.9% trisomy 21, 14.1% trisomy 18, 8.7% Klinefelter Syndrome, 7% monosomy X, 6.6% trisomy 13, 1.7% trisomy X, 1.7% XYY Syndrom, 10% mosaics and the others represented the remaining. Of the structural abnormalities 35% were balanced while the 4% were unbalanced. The frequent structural abnormalities were 25.3% 46,XX/XY, inv(9)(p11;q12) and 19.5% 46,XX/XY, inv(9)(p11;q13). Balanced and unbalanced translocations, deletions and duplications were alsocontributed to chromosomal abnormalities in lesser extent. CONCLUSIONS: Corollary to literature and our findings revealed that the advanced maternal age and certain environmental factors can increase the risk of fetal chromosomal abnormalities. Fetal chromosomal abnormalities representing 4.63% in our study group is crucial and underlines the importance of prenatal diagnosis for healthier pregnancies., AMAÇ: Amniyosentez, genetik hasarlı çocukların doğumunun engellenmesi ve toplumda genetik hastalıkların sıklığının azaltılması bakımından oldukça önemlidir. YÖNTEM: Sitogenetik laboratuvarımızda 2000-2009 tarihleri arasında kadın hastalıkları polikliniği ile çevre hastaneler tarafından gönderilen 4707 olgunun amniyon sıvısı, koryon villus örneklemesi, fetal idrar ve fetal dokuları kullanılarak karyotip analizleri yapıldı. BULGULAR: Prenatal tanı için kabul edilen gebe annelerin yaş ortalaması 29.1 ve gebelik haftası 18.8’dir. Analizi yapılan toplam 4707 fetüsün 2284’ü erkek ve 2205’i kız karyotipine sahipken (erkek/kız oranı 1.03) 218’ide (%4.63) kromozom düzensizliğine sahipti. Kromozom düzensizliği ileri anne yaşı ile gelen grupta en yüksek bulunurken, üçlü tarama testi riski ile gelen grup bunu izledi. Kromozom düzensizliği saptanan annelerin ortalama yaşı 33 olup yaş ile kromozom düzensizliği arasında doğru orantılı ilişki olduğu saptandı. Kromozom düzensizliği gösteren karyotiplerin %55.5’inin sayısal, %44.5’inin ise yapısal anomaliler olduğu gözlendi. Sayısal anomaliler içinde görülme sıklığı sırasıyla; trizomi 21 (%47.9), trizomi 18 (%14.1), Klinefelter sendromu (%8.7), monozomi X (%7), trizomi 13 (%6.6), trizomi X (%1.7), XYY sendromu (%1.7), mozaikler (%10) ve diğerleri şeklinde olmuştur. Yapısal anomalilerin %35’inin dengeli ve %4’ünün dengesiz olduğu bulundu. Yapısal anomalilerin içerisinde ise en fazla 46,XX/XY,inv(9)(p11;q12) görülmekte olup (%25.3), 46,XX/XY,inv(9)(p11;q13) ise ikinci sırada yer almaktadır (%19.5). Ayrıca, dengeli ve dengesiz translokasyon, delesyon ve duplikasyonlara da rastlandı. YORUM: İleri anne yaşı, yapılan çalışmalara ve bulgularımıza göre kromozom anomalilerinin temel nedenlerinden biridir. Çalışmamızda sayısal kromozom anomalilerinin yüksek bulunması, anne yaşı ile kesin ilişkili olduğunu göstermektedir. Bulgularımıza göre; kromozom anomali oranının %4.63 olması doğum öncesi genetik tanının önemini vurgulamaktadır.

Amaç: Koroner arter hastalığı (KAH), kalp hastalıkları içerisinde en yaygın olanıdır. KAH, kalbin kendi dokusuna kan sağlayan koroner arterlerin daralması sonucunda meydana gelmektedir. Damarların daralması endotel duvarlarında kolesterol ve diğer maddelerin birikerek plak oluşumu sonucunda oluşur. Glutatyon S-Transferaz (GST) enziminin de KAH ile ilişkili olduğu bilinmektedir. GST enzimi; ksenobiyotik metabolizmasında, endojenik ve ekzojenik maddelerin detoksifikasyonunda rol oynayan önemli bir enzim grubudur. Glutatyon S-transferaz M1 (GSTM1) ve T1 (GSTT1) genleri sigara dumanında bulunan bazı kimyasalların detoksikifikasyonu veya aktivasyonu ile ilişkilidir. Bu genlerde mutasyonların olması enzimin aktivitesinin azalmasına ve KAH oluşmasına neden olur. Bu çalışmada; 1.-4. kuşaklarda KAH ve Akut Miyokart İnfarktüsü (AMİ) öyküsüne sahip bir ailede GSTM1 ve GSTT1 genleri ile ilişkisi araştırıldı. Materyal ve Metod: Bu çalışmada soy ağacı bilinen ailenin çalışmaya dahil edilen kişilerinin yaşı, sigara alkol kulanı, hastalık öyküsü kaydedildi. Probandın ortaya çıktığı kişiden başlayarak 1. ve 4. kuşakların soyağacı çıkarıldı. 1.-4. kuşaklarda yaşayan ve bulunabilen 100 kişiden venöz kan örneği alındı. GSTT1 ve GSTM1 genleri uygun primerler kullanılarak PCR yöntemi ile amplifiye edildi ve agaroz jel elektroforezinde yürütüldü. Bulgular: Bu ailede 24 kişinin KAH olduğu, bu hastaların 19 (%79)"unun da sigara kullanma alışkanlığının olduğu belirlendi. Yapılan moleküler analiz sonucunda GST polimorfizmine rastlanmadı. Sonuç: Çeşitli çalışmalarda GST geninin KAH ile ilişkili olduğu bildirilse de bizim çalışmamızda GSTT1 ve GSTM1 genlerinde polimorfizmin olmaması bu ailede ilişkili olmadığını göstermektedir. Yine sigara kullanımının GST enzim aktivitesini kesin azalttığı bildirilse de bu ailedeki koroner arter hastalığının sigara kullanımı ile de ilişkili olmadığını düşündürmektedir., Purpose: Coronary artery disease (CAD) is the most common disease in heart-related diseases. CAD arises from the contraction of coroner artery, which provides blood for heart tissue. Glutathione S-Transferase (GST) enzymes are known to be associated with CAD. Glutathione S-Transferase M1 (GSTM1) and Glutathione S-Transferase T1 (GSTT1) genes are associated with detoxification or activation of chemicals in cigarette smoke. Mutations in these genes lead decreased enzyme activities and formation of CAD. In this study the relationship between GSTM1 and GSTT1 genes and CAD were investigated in four generations (1-4) of a family with a history of CAD and acute myocardial infarction (AMI). Material and Methods: Patients of a family with known family pedigrees included in the study. The age, use of alcohol, cigarette smoking, and disease history were recorded. Starting from the proband patient the pedigrees from first to fourth generation pedigree were examined. One-hundred venous blood samples obtained from all 4 generation individuals. Glutathione S-Transferase M1 and GSTT1 genes were amplified employing gene specific primers with PCR and visualized by agarose gel electrophoresis. Results: In this family 24 person had CAD and 19 (79%) of them were heavy cigarette smokers. As a result of the molecular analysis, we did not detect any GST polymorphisms. Conclusion: Although several lines of studies indicate an association of CAD with GST gene polymorphisms, in our study no association was found between CAD and GST polymorphisms for all family members tested. Moreover, we did not establish an association between coronary artery diseases and cigarette smoking.

Objective:Cardiovascular disease (CVD) is the leading cause of death worldwide. The methylenetetrahydrofolate reductase (MTHFR) gene, located on the short (p) arm of chromosome 1 at position 36.3 (1p36.3), might be a possible risk factor for the pharmacogenetics in CVD. A common polymorphism in MTHFR (C677T, Ala→Val) decreases this enzyme activity and increases the homocysteine concentrations, predisposing one to heart disease. Alternatively, statins, cholesterol-reducing agents, are also used to reduce the homocysteine blood concentrations; the aim of the present study was to evaluate how the genotype frequencies of the MTHFR C677T polymorphism, namely rs1801133, change in the cardiovascular system in patients treated with statin.Methods:In this study, the genotype distribution of the MTHFR C677T polymorphism in CVD patients treated with statin (hydrophilic and lipophilic) (n=290) and healthy controls (n=151) was assessed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Results:In this study, a statistically significant difference in genotype frequencies for the MTHFR C677T polymorphism was found between CVD patients treated with statin and controls (p=0.037).Conclusion:For the first time, we demonstrate a relation between a MTHFR gene polymorphism and CVD in patients treated with statins in the Turkish population.

5,10-Metilentetrahidrofolat redüktaz (MTHFR) folik asit metabolizması için en önemli enzimlerden biridir. Bu proteinin geni 1 numaralı kromozomun kısa kolunda (1p36.3) haritalanmıştır. MTHFR enzimi, folik asit, nükleotid sentezi (DNA, RNA) gibi pek çok reaksiyonu içeren hücre metabolizmasında, kilit rol oynar. Polimorfizmler etnik kö- kene ve ırklara göre farklılık gösteren ve biyoçeşitlilikte rol oynayan bir faktördür. MTHFR 677 C>T polimorfizmi enzim aktivitesini azaltan bir polimorfizmdir. Çalışmanın amacı, Türkiye’de MTHFR C677T polimorfizmi ile ilgili olan çalışmaları derlemektir. Bu nedenle, Türkiye’de yapılmış MTHFR 677 C>T polimorfizmi ile ilgili PUBMED, Türk Biyokimya ve Klinik & Deneysel Araştırmalar dergisinde yayınlanmış bütün çalışmalar derlenmiştir. Araştırma yapılırken “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” anahtar kelimeleri kullanılmıştır. Bu çalışmalar, belli başlı hastalık gruplarına göre sınıflandırılmış ve tablolar halinde okuyucunun değerlendirmesine sunulmuştur. 5,10-Methlenetetrahydrofolate reductase (MTHFR) is one of the most important enzymes for folic acid metabolism. This protein’s gene is mapped on chromosome 1, which is located at the end of the short arm (1p36.3). MTHFR enzyme plays a key role in cell metabolism including folic acid and nucleotide synthesis (DNA, RNA). Polymorphism is also a factor in biodiversity, and is different according to ethnic heritage and racial. The 677 C>T is also MTHFR polymorphisms that decrease MTHFR enzyme activity. The aim of this study is to compile studies are associated with MTHFR C677T polymorphism. PUBMED, Turk Biochemistry and Jornal of Clinical & Experimental Investigations were searched to develop an investigatory pursuit strategy. MTHFR, Turkish population, 677 C>T and polymorphisms were key words including “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” used to focus the search. The literature review included all published relevant Turkish population and MTHFR polymorphisms for that all of study. The data of selected polymorphism for Turkish population was listed in tables for easy access and retrieval.

Objectives: Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha ( ESR1 ) and catechol- O -methyltransferase ( COMT ) genes and the risk of developing familial prostate carcinoma. Materials and Methods: In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes. Results: Among control patients, the ESR1 Pvu II genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 Pvu II allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 Pvu II genotypes there were not any significant difference in terms of genotype ( P = 0.199) and allele ( P = 0.181) frequencies . Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype ( P = 0.111) and allele ( P = 0.093) frequencies. But the C/C genotype of the Pvu II site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene , there was not any significant difference in terms of genotype ( P = 0.843) and allele ( P = 0.991) frequencies . But the G/A genotype of the COMT gene had a weak tendency toward increased risk. Conclusion: Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.

The number of trinucleotide repeats [CAG (coding for polyglutamine), GGC (coding for polyglycine)] in the first exon of the androgen receptor (AR) gene and prostate-specific antigen (PSA) gene androgen response element I A/G polymorphism are both related to prostate cancer prognosis. We investigated whether these genomic changes occur in the AR and PSA genes, which are usually found in individuals with prostate cancer, of Turkish patients and to find out their distribution in the population. We used PCR and PCR-RFLP assays for AR and PSA genes, respectively, to detect molecular changes in 44 prostate cancer patients. Our findings indicate that individuals with prostate cancer tend to have around 18 CAG trinucleotide repeats. We observed significant differences between 22 controls, 33 benign prostate hyperplasia (BPH) patients and 44 adenocarcinoma patients for long CAG repeats. However, we did not find any significant differences in GGC repeats between controls, BPH and adenocarcinoma patients (P = 0.408). We also did not observe significant differences in the PSA A/G polymorphism frequency between controls, BPH and adenocarcinoma patients (P = 0.483). In conclusion, CAG and GGC repeats in the AR and PSA gene polymorphisms may be associated with prostate cancer risk and BPH in the Turkish population.

Obsessive compulsive disorder (OCD) is a neurobiological disease characterized with obsessions and compulsions. Obsessive compulsive disorder occurs with an autoimmune mechanism after Group A β hemolytic streptococcus (GABHS) infection. Tumor necrosis factor (TNF) is an important cytokine, as well as having an important role in the apoptosis mechanism of autoimmune diseases. It is expressed by the TNF-α gene. The aim of this study was to examine the relationship between the TNF-α gene promoter region -308 (G>A) and -850 (C>T) polymorphisms and OCD. In this study, ages of the OCD patients and the control group ranged between 4 and 12 years. We studied two patient groups, one included childhood onset OCD patients (n = 49) and the control group was composed of healthy children (n = 58). Patients were diagnosed according to the Diagnostic and Statistical Manual of Mental Disorder (DSM-IV) criteria and with Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime (KSAD-S-PL) version. For identifying the polyorphisms, polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and polyacrylamide gel electrophoresis (PAGE) methods were used.For the -308 polymorphism, 45 of 49 OCD patients’ results were completed, and for the -850 polymorphism, 47 of 49 OCD patients’ results were completed. According to our statistical results, there is a positive relationship between OCD and the -308 polymorphism (p

Bladder cancer is the 9th most common cancer and is responsible for malignancy related death all on the world. Folate and folate related enzyme polymorphisms related to the cancer risk. The methylene tethrahydrofolate reductase (MTHFR) enzyme is folate related and association of bladder cancer and MTHFR gene. Our purpose was to assess the prevalence of MTHFR gene 677 CT and 1298 AC polymorphisms and Bladder cancer in Turkey. We intended that bladder cancer patients and controls and we used the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. The MTHFR gene C677T and A1298C polymorphisms were associated with an increased risk of bladder cancer in our population (For the MTHFR gene C677T polymorphism and A1298C polymorphism; p=0.0360.05; p=0.2780.05 respectively). Consequently, the MTHFR gene C677T polymorphism augments the risk of bladder cancer in Turkey.

WOS: 000297861600005 PubMed ID: 24052700 Prostate cancer is the proliferation of malignant cells in the prostate gland. The HPC2/ELAC2 gene on chromosome 17p11.2 and SRD5A2 gene on chromosome 2p22-23 are predisposing genetic factors. We examined the relationship between Ser217Leu and Ala541Thr polymorphisms of the former gene, and Ala49Thr and Val89Leu polymorphisms of the latter gene to prostate cancer in Turkish men, using the polymerase chain reaction (PCR) method and appropriate restriction enzymes. The HPC2/ELAC2 gene Ser217Leu and SRD5A2 gene Ala49Thr polymorphisms were associated with an increased risk of prostate cancer in Turkish men [ for the HPC2/ELAC2 gene Ser217Leu polymorphism: odds ratio (OR) 2.7; confidence interval 95% (CI 95%) 1.6-4.8; p 0.000

WOS: 000284798000003 Objective: The p53 tumour suppressor gene plays an important role in the regulation of cell proliferation. It is located on the short arm of the 17th chromosome. It has 11 exons and encodes for a tumor suppressor protein called p53 which is 53kD in weight and 393 amino acids in length. This protein, a transcription factor, is an important regulator of cell cycle. Up to date, a number of mutations (75% of which are found between codon 26 and 332) have been detected on p53 gene. Recent researches showed that lung neoplasm resulting from the mutations of p53 gene varied between 33% (adenocarcinoma) and 70% (small cell lung cancer), and it is reported that the hot spots were mainly found at the codons 175, 248, and 273. Material and Methods: In this study, the exons, exonintron junctions, and some intron regions, which are located between exon 4-9 of p53 gene, of 24 patients who had a surgical operation due to a lung mass were examined by automatic DNA sequencing in University of Leipzig. Results: 53 missense and 7 frameshift mutations were detected between 4(th) and 9(th) exons (Codons 36-318) of 18 samples among the 24 samples. Fifty five of these mutations were heterozygous, and five of them were homozygous. Similarly, 12 missense mutations detected as a result of the serial analyses of the region between introns 4-9, and seven of them were heterozygous and 5 were homozygous. Conclusion: Some research regarding p53 gene reported that codon 175, 248, and 273 were hot spots and mutations were frequent in these codons. However we have not seen any mutations in any of these codons in our study. Nucleotide changes at the positions 13432 (5' beginning) and 13999 (3' ending) of 6th intron, which are very important regions, may result in the formation of an abnormal protein. We suppose that other nucleotide changes are not very important due to their heterozygous nature and location. Cukurova UniversityCukurova University [TF.2000-M-17] We would like to thank director of Human Genetics Institution Professor Ursula G. Froster from Faculty of Medicine, Leipzig University, and their research committee for their contributions. This project was supported by the Cukurova University Research Grant TF.2000-M-17.

Bu çalışma; son yıllarda yerli kutznöz leishmaniasis (KL) vakalarının görüldüğü Hocallı ve Turunçlu (Adana) köylerinde vakaları tespit etmek, halkı hastalıklardan korunma konularında bilinçlendirmek, muhtemel vektörleri ve vektörlerin mevsimsel yoğunluğunu saptamak için yapılmıştır. Çalışmaya anket ile başlanmış ve 567 kişi ankete katılmıştır. Araştırma ekibinin doktoru başlangıçta her iki köyde yaşayan tüm halkı KL konusunda muayene etmiştir. Daha sonra her iki köye periyodik olarak her ay ziyaretler yapılmış ve yeni vakalar tespit edilmiştir. Bu ziyaretler sırasında hayvan barınakları ve evlere yağlı kağıt ve CDC ışık tuzakları yerleştirilerek Phlebotomus'lar toplanmış ve laboratuvar ortamında tür tespiti yapılmıştır. Ankete katılanların %45,0‘ini erkekler, %55,0'ini kadınların oluşturduğu belirlenmiştir. KL prevalansı %7,2 olarak bulunmuştur. Saptanan vakaların 30'u eski, 11'i ise yenidir. KL vakası Turunçlu köyünde yüksek bulunmuş olup, vakaların 17'si erkeklerde, 24'ü de kadınlarda saptanmıştır. Kadınlar ve erkekler arasında vaka sıklığı bakımından farklılık görülmemiştir (p>0.05). Evlerin badanalı olması, hayvan besleme durumu ile KL görülme sıklıkları arasında anlamlı ilişkiler görülmemiştir. Çalışma süresi boyunca her iki köyden toplam 88 adet Phlebotomus bulunmuştur. Phlebotomus türlerinden sadece P. papatasi ve P. tobbi kaydedilmiş, Sergentomyia cinsi de saptanmıştır. Yağlı kağıt tuzaklarda çoğunlukla P. papatasi, CDC ışık tuzaklarında ise P. tobbi yakalanmıştır. The aim of this study was the detection of cutaneous leishmaniasis (CL) cases at TurunÇlu and Hocallı Villages, Adana, Turkey, where local cases had been observed in recent years, and to determine possible vectors and their seasonal density distribution. This was for the purpose of encouraging public awareness and thus leading to prevention. An initial questionnaire was responded by 567 people, with a male-to-female ratio of 45% to 55%. The physician in the research group examined the whole population of both villages for CL and then made monthly visits in order to detect new cases. Adhesive paper traps and CDC light traps were placed in houses and animal stables in order to collect sandflies, whose species were later determined in the laboratory. The CL prevalence was found to be 7.2%, with 30 old cases and11 new cases. The number of cases in the TurunÇlu Village was high with 17 men and 24 women affected. The case frequencies were not different between men and women (p>0.05). The houses being whitewashed or kind of animal feeding were not found to affect the frequency of CL. In the two villages, 88 Phlebotomus were detected. P. papatasi and P. tobbi were of the genus Phlebotomus, while the genus Sergentomia was also observed. P.papatasi was most frequent in adhesive paper traps, while P.tobbi was frequent in light traps.

PubMed ID: 19040121, Cytochrome P450 (CYP) is a heme-containing enzyme superfamily metabolizing a wide variety of xenobiotics, including drugs and carcinogens. The majority of CYP genes are expressed in the liver, however, some CYP isoforms are also reported for a number of extra hepatic tissues. We analyzed Cytochrome P450-2A6, -3A5 and -4B1 mRNAs using real-time reverse-transcriptase polymerase chain reaction (RT-PCR) in a total of 21 homogenized prostate tissues with or without malignancy. We detected a consistent expression of CYP2A6 and CYP3A5 in all, and of CYP4B1 in some (11/21) of the samples at mRNA level. Neither the histopathological status nor the smoking habit of the individuals affected CYP4B1 expression. Our results reflect possible roles for these particular CYPs in therapy and protection of prostate tissue. © 2008 Verlag der Zeitschrift für Naturforschung.

PubMedID: 16619606 In total, 320 phelebotomine sand flies from Alibozlu (Osmaniye), Kizyusuflu (Osmaniye), and Sanliurfa in southeastern Turkey were tested for the detection and identification of Leishmania in vector sand flies by enzyme-linked immunosorbent assay with species-specific monoclonal antibodies. We used monoclonal antibodies that recognize both Leishmania tropica and Leishmania major, and a monoclonal antibody specific only to L. tropica. Phosphate-buffered saline and monoclonal antibody M2 recognizing Leishmania amazonensis were used as controls. Infection rates of sand flies were 0.9% in Alibozlu, 0% Kizyusuflu, and 3.6% in Sanliurfa. Positive sand flies were identified as Phlebotomus sergenti Parrot and Phlebotomus major syriacus Adler & Theodor. © 2006 Entomological Society of America.

PubMedID: 16765994 Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS10-11g › a splicing mutation in 27/46 (58.7%), R261Q mutation in 7/46 (15.2%) and E178G, R243X, R243Q, P281L, Y386C, R408W mutations, each found in the frequency of 2/46 (4.3%). In many countries, Arginine mutations have the highest frequency among PAH gene mutations in PKU patients. Although, CpG dinucleotids are effective in mutations resulting in arginine changes, this finding originated from the studies on the causes of mutations rather than the studies on the importance of arginine amino acid. In our analyses, we have detected that a majority of mutations causing a change in arginine and other amino acids concentrated in exon 7 comprising the catalytic domain (residues 143-410) of PAH gene. Several studies has emphasized the role of arginine amino acid; with the following outcomes; arginine repetition is significant for RNA binding proteins, and for histon proteins in eukaryotic gene expression, and also arginine repetition occurring in the structure of signal recognition particle's (SRPs) as a consequence of post-translational processes is very important in terms of gene expression. Therefore, the role of arginine amino acid in PAH gene is rather remarkable in that it shows the role of amino acids in the protein/RNA interaction that has started in the evolutionary process and is still preserved and maintained in the motif formation of active domain structure due to its strong binding properties. Thus, such properties imply that both arginine amino acid and exon 7 is of great significance with regards to the structure and function of the PheOH enzyme. © 2006 Elsevier B.V. All rights reserved.

Anopheles sacharovi, the main human malaria vector in Turkey, has been maintained in our laboratory by feeding on anesthetized rabbits for about 20 years but it is a difficult species to colonize and bloodfeed. To eliminate the need for keeping and using live rabbits to supply blood meals, artificial bloodfeeding methods with suitable membrane apparatus were investigated. The feeding apparatus designed by the World Health Organization and 3 other types designed by us (for feeding on preserved human blood) were tested. Artificial membranes (latex and paraffin film) and locally produced and dried calf intestine were used. The calf intestine membrane gave the best feeding results and a modified apparatus designated type III was the most successful. This apparatus was preferable for the artificial feeding of An. sacharovi because it has a small reservoir, is easy to use, is adaptable to different feeding conditions, and supports reasonably high bloodfeeding rates 44.4-50.5% as compared to 35% on live rabbits.

Background: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS. Materials and Methods: We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus ) and MboII (derivated from Moraxella bovis ), respectively. Results: MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000). Conclusion : Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.