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Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissuenonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia. The newborn was evaluated for respiratory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high levels of substrates of tissue-nonspecific isoenzyme of alkaline phosphatase and radiologic findings. On day 21 after birth, enzyme replacement therapy using asfotase alfa (2 mg/kg three times per week, subcutaneous injection) was started. We were able to discharge our patient when he was 7 months old. His respiratory support was gradually reduced and skeletal mineralization improved during treatment. No mutation was detected in the ALPL gene by all exon sequencing, and additional analysis was done by quantitative polymerase chain reaction. As a result, a novel homozygote duplication encompassing exons 2 to 6 was detected. Early diagnosis and rapid intervention with enzyme replacement therapy is life-saving in the severe form of hypophosphatasia. Quantitative polymerase chain reaction can detect duplications if a mutation cannot be detected by sequence analysis in patients with hypophosphatasia. WOS:000485922404027 Q2

Giriş: İnsülin ve kolon, akciğer ve endometrium kanserleri gibi bazı kanser türleri arasında pozitif bir korelasyon olduğu bilinmektedir. Prostat kanseri de bunlardan birisidir. Bu çalışmadaki amacımız insülin geni 3" UTR bölgesinde lokalize olan INS+1127 PstI polimosfizminin prostat kanseri etiyolojinde rolünü araştırmaktır. Materyal ve Metot: Çalışmaya 71 prostat kanseri tanısı almış hasta ve 119 normal kontrol bireyi dahil edilmiştir. INS+1127 PstI polimorfizm araştırması için PCR ve RFLP tekniği kullanılmıştır. Bulgular: Çalışmanın sonucunda INS geni PstI polimorfizmi genotipleri prostat kanserli hastalarda (n:71) %67,6 CC, %28,2 CT, %4,2 TT; kontrol grubunda (n: 119) %78,2 CC, %21 CT, %0,8 TT olarak belirlenmiştir. Sonuç: Hasta ve kontroller arasındaki genotip dağılımında istatistiksel olarak anlamlı bir farklılık bulunamamıştır (P=0,078).

Akciğer kanseri, tüm dünyada mortalitesi en yüksek kanser türüdür ve kardiyovasküler hastalıklardan sonra ölüm nedenleri arasında 2. sırada yer almaktadır. Metilasyon bir epigenetik mekanizma olup DNA düzeyinde herhangi bir mutasyon olmamasına rağmen ilgili genin eksprese olmasını engelleyen bir moleküler mekanizmadır. Çalışmada henüz çok yeni bir yöntem olan Multiplex Ligation-dependent Probe Amplification (MLPA) tekniği ile akciğer kanserleriyle daha önce ilişkilendirilmiş 24 ayrı tümör süpressör genin promoter bölgelerinin metilasyon paternlerinin SALSA MS-MLPA ME001 tumorsuppressor probemix kiti kullanılarak incelenmesi amaçlanmıştır. Bu çalışmaya İstanbul Yedikule Göğüs Hastalıkları Hastanesinde, histopatolojik olarak incelenerek “küçük hücreli olmayan akciğer kanseri” tanısı almış 100 olgu dahil edildi..Her hastaya ait doku örneklerinden kanser dokusu içeren 5 mikronluk kesitlerden elde edilen DNA örnekleri çalışma grubu olarak, aynı hastaya ait kanser dokusu içermeyen kesitlerden elde edilen DNA örnekleri de kontrol grubu olarak çalışmaya alındı. Çalışmada, akciğer kanserli tümöral ve çevre akciğer dokularında birbirlerine yakın oranlarda en sık CDKN2B, BRCA1, CDH13 ve HIC1 prob bölgelerinde metilasyon görüldü. Yine tümöral ve çevre dokularda PTEN, TIMP3, ATM, VHL, CD44, CDKN1B, RASSF1, IGSF4 ve ESR1 prob bölgelerinde de metilasyon saptandı. APC, CDKN2A, MLH1, RARB, CHFR ve GSTP1 prob bölgelerinde farklı oranlarda, tümöral dokularda metilasyon görülürken, çevre akciğer dokularında bu prob bölgelerinde metilasyon saptanmadı. Sonuç olarak MS MLPA yönteminin akciğer kanserlerinin metilasyon profillerinin taramasında kullanılabilecek, ucuz ve hızlı sonuç verebilen bir teknik olduğu görülmüştür. MS MLPA yönteminin diğer metilasyon tarama yöntemleriyle karşılaştırılarak bir an önce senstivite ve spesivitesinin belirlenmesi ve akciğer kanserinin erken tanısında rutin kullanıma geçirilmesi gerektiğini düşünmekteyiz., Lung cancer has the leading mortality rate among all cancer types and is the second most common cause of death after cardiovascular diseases. Apart from being an epigenetic mechanism, methylation is also a molecular mechanism which inhibits cancer-related gene expression although there is no mutation at DNA level. The aim of this study was to analyze a probe panel interrogated DNA for methylation patterns in 24 tumor suppressor genes in non-small cell lung cancer using the Methylation Specific- Multiplex Ligation-dependent Probe Amplification [MS-MLPA] method the Multiplex Ligation-dependent Probe Amplification [MLPA] method. Previously examined clinically and histopathologically diagnosed a hundred cases with “non-small cell lung cancer”were included into the study. The DNAs were extracted samples from both cancerous tissues of the cases and their corresponding control tissues. The relations of the methylation profile to clinicopathological factors in NSCLC were evaluated. The genes frequently methylated in NSCLC including CDKN2B, BRCA1, CDH13 and HIC1 were also hypermethylated in surrounding nontumorous lung tissues. However, hypermethylated APC, CDKN2A, MLH1, RARB, CHFR and GSTP1 probe regions were only specific to the tumorous tissues of the cases. The aberrant methylation profile of the CDH13 probe region was only detected in the surrounding normal tissues and the difference was statistically significant. Methylation rates for ATM, RARB, CDKN2B, HIC1, CDKN1B, PTEN, VHL and APC were different between squamous and adenocarcinomas. Almost all hypermethylated probe regions were detected in higher grade tumors but CDKN2B hypermethylation seemed to be an early event in NSCLCs. In conclusion, MS-MLPA can be used to determine aberrant methylation patterns of specific genes in lung tumors. However, since MS-MLPA is a screening test, the confirmation and expression analysis by using different approaches are necessary.

Objectives: The frequency of Interleukin-23 receptor (IL-23R) gene polymorphism was previously studied in Ankylosing spondylitis (AS) and Sjögren syndrome (SS). However, it hasn’t been studied in patients AS with SS. Methods: The study included 124 patients with AS, 55 patients with SS and 12 patients with association of AS and SS. Results: It was found that there was an increase in the frequency of rs10889677 gene mutant genotype while a decrease in the frequency of in rs11209032 gene mutant genotype in AS group compared to the healthy controls. In SS group, it was found that there was an increase the frequencies of rs11805303 gene wild genotype and rs2201841 gene wild genotype while a decrease in the frequencies of rs11209032 gene heterozygote genotype and rs10489629 gene mutant genotype when compared to healthy controls. CGCAA haplotype was associated with risk for AS (P=0.0125; RR: 1.32). CGCAG haplotype was associated with protective effect against ankylosing spondylitis (P=0.0042; RR: 0.52). While CTCAA haplotype was found to be protective against SS (P=0.022; RR: 0.46), it was associated with increased risk for association of AS and SS (P=0.0095; RR: 2.79). CTCAG haplotype was associated with protective effect against association of AS and SS (P=0.0151; RR: 0.02). It was observed that TGCGG haplotype increased significantly in SS group compared to the healthy controls and that it was related with increased risk for SS (P=0.032, RR: 2.56). Conclusion: Genotype distribution and genetic diversity vary among ethnic groups. Studies with larger sample size are needed to further clarify this issue. © 2016, E-Century Publishing Corporation. All rights reserved.

Objective: The effects of certain genetic alterations in the brain function of patients with attention deficit hyperactivity disorder (ADHD) remain unclear and, in fact, there is a limited amount of data in this field. For example, the relationship between the SNAP-25 polymorphism and brain metabolites in response to methylphenidate (MPH) has yet to be investigated. Thus, the present study aimed to determine the relationship between changes in creatine (Cr), choline (Cho), and N-acetyl aspartate (NAA) levels in the prefrontal cortex (PFC) and anterior cingulate cortex (ACC) of adults with ADHD and the SNAP-25 gene polymorphism following the use of MPH. Patients and Methods: The present study assessed 60 patients between 18 and 60 years of age who were diagnosed with ADHD according to criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV). Genetic analyses were carried out using blood samples obtained from the ADHD patients and included a detailed clinical evaluation for the SNAP-25 gene polymorphism. The NAA, Cr, and Cho levels in the ACC and PFC were measured using magnetic resonance spectroscopy (MRS). Following the evaluation, 10 mg of oral MPH was given to the patients, and the same metabolite levels were measured after 30 minutes. Results: The levels of NAA, Cr, and Cho in the PFC and ACC of patients with the SNAP-25 Ddel and Mnll polymorphism genotypes did not significantly differ before and after the administration of MPH. However, in patients with the SNAP-25 Ddel polymorphism T/T genotype and the Mnll polymorphism G/G genotype, there was a significant increase in NAA levels in the ACC after MPH treatment compared with before MPH treatment. Conclusion: The present results suggest that the SNAP-25 Ddel and Mnll polymorphisms might be associated with MPH-related changes in NAA levels in the ACC.

OBJECTIVE: We aimed to determine the hot spot mutational frequencies of Enhancer of Zeste homolog 2 (EZH2) and cluster of differentiation 79B (CD79B) genes in a cohort of mature B-cell non-Hodgkin's lymphomas. PATIENTS AND METHODS: DNA samples from formalin-fixed and paraffin embedded (FFPE) tissues from a total of 37 patients with mature B-cell non-Hodgkin lymphomas were included in the study. Molecular genetic analysis was performed by direct sequencing of the DNA samples. RESULTS: We analyzed formaldehyde fixed-paraffin embedded (FFPE) tumor tissue samples from 17 female and 20 male patients with a median age of 63.7 years at the time of diagnosis. None of the patients had previously reported hot spot mutations in EZH2 and CD79B, but previously unreported single nucleotide variations of CD79B were present in nine patients. rs779833118 was the most frequent variation (7/37 patients, 18.9%). A non-synonymous variation rs757407417, which could have a potentially damaging outcome, was detected in two patients. CONCLUSIONS: None of the patients had well-known hot spot mutations in EZH2 and CD79B. However, we detected novel CD79B variations in mature B-cell non-Hodgkin's lymphoma patients. © 2016, Verduci Editore. All rights reserved.

AMAÇ: Esansiyel hipertansiyon, nedeni saptanamayan ya da ikincil bir hastalığa bağlı gelişmeyen kan basıncı yüksekliği olarak tanımlanmaktadır. Esansiyel hipertansiyonla ilişkili çok sayıda gen polimorfizmleri, metabolik yollar ve sistemler tanımlanmış olmakla birlikte esansiyel hipertansiyonun patogenezi tam olarak anlaşılamamıştır. Son zamanlarda üzerinde çalışılan duyarlılık genlerinden biri de Chromogranin A (CHGA) genidir. CHGA geni başta adrenal medulla ve postganglionik sempatik aksonlardan eksprese olan, intrasellüler ve ekstrasellüler mekanizmalar ile katekolaminlerin depolanması ve salınımını düzenleyen bir gendir. Bu çalışmada CHGA geni promotor bölgesindeki T-1014C, T-988G, G-462A ve T-415C polimorfizmleri açısından esansiyel hipertansiyon hastaları ile kontrol grubu arasında fark olup olmadığı araştırılmıştır.YÖNTEMLER: Bu çalışmada esansiyel hipertansiyon tanısı almış 50 hasta ve sağlıklı olarak kabul edilen 32 kişiden EDTA’lı tüplere periferik kan örnekleri toplanmıştır. Toplanan örneklerden DNA elde edildikten sonra CHGA geni promotor bölgesindeki T-1014C, T-988G, G-462A ve C-415T polimorfizmlerin bulunduğu DNA dizisini içeren bölge, özgün primerler kullanılarak polimeraz zincir reaksiyonu (PCR) ile çoğaltılarak polimorfizmler otomatik kapiller jel elektroforez cihazı kullanılarak DNA dizi analizi yöntemi ile araştırılmıştır. İstatistiksel analiz SPSS 11,0 versiyonu kullanılarak yapılmış olup çalışmadan elde edilen veriler tanımlayıcı istatistiksel analiz ve Ki-kare testleri ile değerlendirilmiştir.BULGULAR: Hasta grubunda CHGA geni promotor T-1014C polimorfik bölge için C alleli, CC ve TC genotipi, T-988G polimorfik bölgesi için G alleli, GG ve TG genotipi sıklığı kontrol grubuna kıyasla istatistiksel olarak yüksek saptanırken (p0.05).SONUÇ: CHGA geni promotor bölgesindeki T-1014C ve T-988G polimorfizmleri hasta grubunda kontrol grubuna göre anlamlı bulunmuştur. Olgu sayısındaki kısıtlılık nedeniyle elde edilen sonuçlar Türk toplumundaki CHGA promotor bölge polimorfizmlerini tam olarak yansıtmayabilir. Ancak Türk toplumunda yapılmış ilk çalışma özelliğini taşıyan bu çalışma ileride yapılacak çalışmalara öncülük etmesi bakımından önemlidir., OBJECTIVE: Essential hypertension is defined as high blood pressure with unknown cause or does not due to secondary disease. There are described a lot of gene polymorphisms, metabolic pathways and systems associated with essential hypertension. However these genes, metabolic pathways and systems give partial information for understanding of essential hypertension’s pathogenesis. CHGA gene, one of susceptibility genes, has been studied recently. CHGA gene, which is mainly expressed in the adrenal medulla and postganglionic sympathetic axon, regulates storage and release of catecholamines by intracellular and extracellular mechanisms. In this study, it is aimed to investigate polymorphisms in CHGA gene’s promoter T-1014C, T-988G, G-462A and T-415C regions with sequence analysis in the patients of essential hypertension and control cases.METHODS: In this study, peripheral blood samples were collected by EDTA tubes from 50 patients diagnosed with essential hypertension and 32 healthy controls. DNA was obtained from the samples. DNA sequence with T-1014C, T-988G, S-462 and C-415T polymorphisms at the promoter region of CHGA gene was amplified by polymerase chain reaction (PCR) using specific primers. Polymorphisms were investigated by DNA sequence analysis method using automatic capillary gel electrophoresis instrument. Data were evaluated by descriptive statistical analysis and chi-square tests at SSPS 11.0 versionRESULTS: According to the results in the CHGA gene; frequency of C allele, CC and TC genotypes for promoter T-1014C polymorphic region, G allele, GG and TG genotype for promoter T-988G polymorphic region is significantly higher (p0.05). CONCLUSION: The polymorphisms of T-1014C and T-988G at promoter region of CHGA gene were statistically significant between patient and control groups. The results may not fully reflect CHGA promoter region polymorphisms of Turkish population due to limitations in the number of cases. This study is the first study conducted in Turkish population and it is pioneer for future studies.

Prostate cancer (PCa) is one of the most common cancer types worldwide in men. Although Growth Arrest DNA Damage-Inducible 45 (GADD45) family members, GADD45? , GADD45? and GADD45? , are responsible for the activation of several molecules in certain cellular pathways affecting cell fate, including tumorigenesis, as stress sensors, the role of GADD45? in PCa is still not clear. In this study, our aim was to detect the methylation and protein expression profiles of GADD45? in benign prostate hyperplasia (BPH) (60 patients) and PCa (56 patients). The methylation of GADD45? was determined by methylation-sensitive high resolution melting analysis. Immunohistochemistry was used for evaluating GADD45? protein expression. The methylation frequency for GADD45? was as low as 1.8% in PCa compared with BPH (P=0.000). GADD45? protein was overexpressed in PCa cases (53.6%) compared with the BPH cases (33.3%), and the difference was statistically different (P=0.028). There was no correlation between GADD45? methylation and protein expression in both groups. This study shows that in contrast to hematological malignencies, GADD45? methylation is not one of the common epigenetic changes in PCa. In addition, we suggest that the loss of important regulatory mechanisms involved in GADD45? might play a role in the pathogenesis of BPH.

Objective: Recently understanding genetic forms and pathogenic mutations has been providing growing knowledges about etiopathogenesis of Parkinson's disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson's disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson's disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson's disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson's disease.

Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease and chromosomal abnormalities with prognostic impact are frequently detected in CLL patients. There are a variety of characterized chromosomal abnormalities detected by conventional cytogenetics in CLL. These abnormalities are valuable prognostic indicators and important key strategies for making treatment decisions. Deletions of 13q14, 11q22, and 17p13, and trisomy 12 are the most frequent chromosomal abnormalities in CLL. In this study, multiplex ligation probe amplification (MLPA) results using SALSA® MLPA kit P037-A2/P038-A2 were compared with results from conventional cytogenetics and fluorescence in-situ hybridization (FISH) and we assessed the suitability of MLPA technology as a method for detecting a variety of known chromosomal abnormalities in 41 CLL patients. DSP30+IL-2 combination was used as the mitotic stimulating agents because of the low mitotic index of CLL cells in conventional cytogenetics. Locus-specific probes for 11q22.3 (ATM), 13q14.3, and 17p13 (p53), and centromeric probe for chromosome 12 were used for FISH analysis.Informative results were obtained from 80.04% of peripheral blood and bone marrow cultures. Among the 13 positive patients for trisomy 12 by conventional cytogenetics and FISH, 5 patients were normal by MLPA. The 13q14 deletions were detected in 20 patients by FISH, however, of these, 6 patients were normal by MLPA. In contrast, the 17p13 and 13q14 deletions were detected by MLPA but not by conventional cytogenetics and FISH. In this study, we found that MLPA was not as sensitive as conventional cytogenetics and FISH at detecting mosaicisms below 25-30%. Although MLPA is a simple and cost-effective technique, it may give false negative results in patients with low level mosaicism for any abnormalities. We suggest that MLPA should be used with conventional cytogenetics and FISH in detection of chromosomal abnormalities with potential clinical significance in CLL.

Prostate cancer (PCa) is one of the most common cancer types worldwide in men. Although Growth Arrest DNA Damage-Inducible 45 (GADD45) family members, GADD45α , GADD45β and GADD45γ , are responsible for the activation of several molecules in certain cellular pathways affecting cell fate, including tumorigenesis, as stress sensors, the role of GADD45γ in PCa is still not clear. In this study, our aim was to detect the methylation and protein expression profiles of GADD45γ in benign prostate hyperplasia (BPH) (60 patients) and PCa (56 patients). The methylation of GADD45γ was determined by methylation-sensitive high resolution melting analysis. Immunohistochemistry was used for evaluating GADD45γ protein expression. The methylation frequency for GADD45γ was as low as 1.8% in PCa compared with BPH (P=0.000). GADD45γ protein was overexpressed in PCa cases (53.6%) compared with the BPH cases (33.3%), and the difference was statistically different (P=0.028). There was no correlation between GADD45γ methylation and protein expression in both groups. This study shows that in contrast to hematological malignencies, GADD45γ methylation is not one of the common epigenetic changes in PCa. In addition, we suggest that the loss of important regulatory mechanisms involved in GADD45γ might play a role in the pathogenesis of BPH.

Purpose: There is positive correlation between insulin and various cancers such as colon, lung and endometrium. Protate cancer is the one of them. The aim of this study, to determine the incidance of INS+1127 PstI polymorphism, located in the 3' UTR of insulin gene, between prostate cancer cases and controls and to clarify if this polymorphism have any role in the etiology of prostate cancer., Methods: We investigated 71 prostate cancer cases and 119 normal controls unrelated to patients. INS+1127 PstI polymorphism was investigated with PCR and RFLP method., Results: At the end of study; INS+1127 PstI polymorphism genotypes out to be 67.6 % CC, 28.2 % CT, 4.2 % TT among prostatic cancer individuals and 78.2% CC, 21% CT, 0.8% TT among control group individuals., Conclusion: As a result, there was no significant difference between patients and control group, in the genotype distribution.

Tekrarlayan Spontan Abortus Sayesinde Tespit Edilen Ailesel Translokasyon (2;18) Rapor ettiğimiz olgunun reprodüktif öyküsünde tekrarlayan 2 spontan abortusu vardı. Tekrarlayan gebelik kaybının genetik etyolojisi ebeveynlerin kromozom analizleriyle ortaya kondu. Analiz edilen 2 jenerasyona ait 3 bireyde fenotipik olarak normal aynı resiprokal translokasyon tespit edildi. Dengeli olarak gözüken translokasyonların büyük çoğunluğu tekrarlayan düşükler ve normal fenotiple ilişkiliydi. Giemsa bantlamasıyla probandın karyotipi 46, XX, t (2;18) (p15; p11.2) şeklindeydi. Proban dın babası ve erkek kardeşinin karyotipleri de 46,XY, t (2;18) (p15;p11.2) olarak bulundu. Kız kardeşi başka şehirde yaşadığından ve 2 spontan abortusun kayotiplerine ulaşılamadı. dengesiz düşüklerin sitogenetik analizleri, büyüme geriliğine, erken kayıplara ve masere düşüklere sebep olduğundan zordur. Resiprokal translokasyonların klinik önemi büyüktür. Dengeli resiprokal translokasyon taşıyıcılarının düşüklere veya anomalili çocuk sahibi olmaya sebep olan dengesiz translokasyonlu gamet oluşturma riskleri artmıştır. Translokasyon taşıyıcısı ailelere genetik danışma ve genetik testler önerilir.

Akci er kanseri, tüm dünyada mortalitesi en yüksek kanser türüdür ve kardiyovasküler hastalıklardan sonra ölüm nedenleri arasında ilk sıralarda yer almaktadır. Çalı manın amacı Türkiye’de yeni bir yöntem olan Multiplex Ligation-dependent Probe Amplification (MLPA) tekni i ile Akci er kanserlerine spesifik dizayn edilmi olan Salsa MLPA Probemix 126/127 kitleri kullanılarak, akci er kanserleri ile ili kilendirilmi 64 farklı gen bölgesindeki delesyon ve / veya amplifikasyonların incelenerek ortaya konmasıydı. Çalı maya stanbul Yedikule Gö üs Hastalıkları Hastanesinde, histopatolojik olarak incelenerek “ akci er kanseri” tanısı almı 100 olgu dahil edildi. Her hastaya ait parafine gömülü doku örneklerinden, kanser dokusu içeren 5 mikronluk kesitlerden elde edilen DNA örnekleri çalı ma grubu olarak, aynı hastaya ait kanser dokusu içermeyen kesitlerden elde edilen DNA örnekleri de kontrol grubu olarak çalı maya alınmı tır. Çalı mada, akci er kanserli tümöral dokularda en sık 2p, 3p, 13q, 17p ve 16p delesyonları, yine tümöral dokulardan yapılan çalı malarda 17q, 8p ve 5q amplifikasyonları görülmü tür. Tümöral alana kom u akci er dokularından lde edilen DNA’ larda yapılan çalı malarda ise daha az sıklıkta olmak üzere tümöral alanlardakine benzer bölgelerde delesyonlar görülmü tür. Ayrıca özellikle tümöral dokularda 5q, 8p, 9q, 10p, 11p. 11q, 12p, 14q, 17q ve 21q prob bölgelerinde de delesyon saptanmı tır. Sonuç olarak MLPA yönteminin akci er kanserlerinin genomik de i imlerinin taramasında kullanılabilecek ucuz, hızlı ve güvenilebilir sonuçlar verebilecek bir teknik oldu u görülmü tür. Elde edilen bulguların literatürle uyumlu oldu u görülmü tür. MLPA tekni i son zamanlarda geli tirilen en önemli moleküler tekniklerden birisidir ve kanser ara tırmalarında da rahatlıkla kullanılabilecek bir yöntemdir. Lung cancer has the leading mortality rate among all cancers and it is the second most common cause of death following deaths from cardiovascular diseases. This study was aimed to determine deleted and/or amplified regions of 64 different genes regions previously associated with lung cancer by using Multiplex Ligationdependent Probe Amplification (MLPA) technique and SALSA MLPA ProbeMix 126/127 kits which are designed specifically for lung cancer. This study was performed by analyzing 100 archival samples which had been previously examined histopathologically and diagnosed as “lung cancer” in stanbul Yedikule Gö üs Hastalıkları Hastanesi. DNA extracts from 5 micron paraffin-embedded tissue sections which contain cancerous tissues were used as sample group and 5 micron paraffin-embedded tissue sections which contain well- differentiated normal tissues from the same patients were used as control group in the study. In the study, most frequently seen deletions in lung cancerous tissue were 2p, 3p, 13q, 17p, 16p and most frequently seen amplifications were17q, 8p ve 5q. In studies performed in well-differentiated normal lung tissues, deletions in the same region as in cancerous tissue were observed but they were in a lower frequencies. Deletions in 5q, 8p, 9q, 10p, 11p. 11q, 12p, 14q, 17q ve 21q probe regions were seen especially in cancerous tissues. As a conclusion, it was determined that MLPA is a technique which can give cheap, fast and reliable results in screening lung cancers. The findings obtained in the study is compatible with the literature. MLPA is one of the most important molecular techniques which have been developed recently and it can be used in cancer screening easily and reliably. ESOGÜ, Sağlık Bilimleri Enstitüsü

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OBJECTIVE: A large number of studies have shown that the prevalence of somatic chromosome abnormalities detectable with karyotyping is higher in infertile men. However, a normal somatic karyotype does not exclude the chance of having low level mosaicism. STUDY DESIGN: Eleven men with severe oligozoospermia and 10 healthy, fertile men were included in this study. All the patients had severe oligozoospermia with sperm counts ≤ 3,000,000/mL. All participants had normal physical findings and testicular volume. The probe for dual-color fluorescence in situ hybridization consisted of an alpha satellite sequence in the centromeric region of chromosome X (DXZ1) and satellite III DNA at the Yq12 region of chromosome Y (DYZ1). RESULTS: The sex chromosome aneuploidy rate was significantly higher in subjects than in controls (p

Kalıtsal çocukluk çağı işitme kayıplarının en yaygın şekli otozomal resesif non-sendromik işitme kayıplarıdır. Genetik heterojenite ve klinik bulguların belirgin olmaması nedeniyle bu tip işitme kayıplarında sorumlu genin tanımlanması oldukça zordur. Doğuştan işitme kaybı nedeniyle incelenen iki yaşındaki kız çocuğunun aile öyküsünde, ağabeylerinden birinin yanı sıra hastanın anne ve baba tarafında tek taraflı veya iki taraflı işitme kaybı olan altı kişinin daha olduğu öğrenildi. Anne-baba arasında akraba evliliği yoktu; ancak yakın köylerden oldukları belirlendi. Odyolojik inceleme sonucunda iki taraflı ileri derecede sensorinöral işitme kaybı tanısı kondu. İndeks olguda yapılan moleküler analizde, otozomal resesif işitme kaybına GJB2 geninde homozigot 35delG mutasyonunun neden olduğu saptandı.