13 results
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2. Coisa Epistêmica e Corporificação.
- Author
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Rheinberger, Hans-Jörg
- Abstract
Copyright of Linguagem e Ensino is the property of Linguagem e Ensino and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2014
3. Genes e Melanoma.
- Author
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Mendonça Sanches, Maria, Soares de Almeida, Luís, and Pedro Freitas, João
- Abstract
Major advances have been made in the understanding of melanoma in the past decade. The pathophysiology of genetic aberrations in melanoma oncogenesis as well as the evidence of family risk associated, have relevant implications in the treatment and prognosis of patients, namely in patients with advanced disease. In this paper the authors describe, in a schematic and precise way, the different molecular pathways implicated in oncogenetic events in melanoma, which are the molecular targets of new on-going and newly developed targeted therapies. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
4. WHAT 'SNAPSHOT OF BRAZIL'? RACE, BIOLOGY, IDENTITIES AND POLITICS IN THE GENOME ERA.
- Author
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Santos, Ricardo Ventura and Maio, Marcos Chor
- Subjects
GENETIC engineering ,TECHNOLOGICAL innovations ,GENETIC research ,BRAZILIANS ,GENES - Abstract
Copyright of Mana (01049313) is the property of Contra Capa Livraria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2004
- Full Text
- View/download PDF
5. Descubrimiento de Conocimiento en Historias Clinicas mediante Mineria de Texto/Knowledge Discovery in Medical Records through Text Mining
- Author
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Carrascal, Ana Isabel Oviedo, Cotte, David Sanguino, Arango, Natalia Andrea Restrepo, and Vélez, Andrés Felipe Patiño
- Published
- 2019
- Full Text
- View/download PDF
6. Câncer de cabeça e pescoço: polimorfismos genéticos e metabolismo do folato
- Author
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Galbiatti, Ana Lívia Silva, Ruiz, Mariangela Torreglosa, Maniglia, José Victor, Raposo, Luis Sérgio, Pavarino-Bertelli, Érika Cristina, and Goloni-Bertollo, Eny Maria
- Subjects
head and neck neoplasms ,genetic ,polimorfismo genético ,genes ,neoplasias de cabeça e pescoço ,polymorphism - Abstract
Evidências epidemiológicas sugerem que variantes genéticas que codificam enzimas envolvidas no metabolismo do folato podem modular o risco de câncer de cabeça e pescoço por alterar a metilação, síntese de DNA e estabilidade genômica. OBJETIVOS: Realizar uma revisão bibliográfica sobre polimorfismos genéticos envolvidos no metabolismo do folato e o risco de câncer de cabeça e pescoço. METODOLOGIA: Realizou-se uma busca eletrônica na base de dados Medline, selecionando estudos em câncer de cabeça do pescoço e polimorfismos envolvidos no metabolismo do folato. RESULTADOS: A associação do polimorfismo MTHFR C677T no risco dessa neoplasia foi avaliada em nove estudos e três deles mostraram associação com essa doença. Os polimorfismos MTR A2756G e MTRR A66G e RFC1 A80G também foram associados com aumento de risco para o câncer de cabeça e pescoço. O polimorfismo MTHFD1 G1958A não mostra associação com o risco dessa doença e os resultados da avaliação do polimorfismo MTHFR A1298C nesse tipo de neoplasia são contraditórios. Outros polimorfismos envolvidos no metabolismo do folato ainda não foram estudados nesse tipo de neoplasia. CONCLUSÃO: Concluímos que polimorfismos envolvidos no metabolismo do folato podem modular o risco desse tipo de tumor, no entanto, esses resultados precisam ser comprovados em diferentes populações. Epidemiological evidence suggests that genetic variants encoding enzymes involved in folate metabolism may modulate HNSCC risk by altering DNA methylation synthesis and genomic estability. AIM: A review of the literature on genetic polymorphisms involved in folate metabolism and risk of head and neck cancer was carried out. METHODOLOGY: An electronic search was made on the Medline database to select papers on head and neck cancer and polymorphisms involved in folate metabolism. RESULTS: The association between MTHFR C677T polymorphism and the risk of this tumor type was evaluated in nine studies; there was an association with this disease in three papers. The MTR A2756G and MTRR A66G and RFC1 A80G polymorphisms were also associated with increased risk for HNSCC. MTHFD1 G1958A polymorphism was not associated with increased risk of this disease; the evaluation results of the MTHFR A1298C polymorphism in this neoplasm were contradictory. Other polymorphisms involved in folate metabolism were not studied for this neoplasm. CONCLUSION: We conclude that polymorphisms involved in folate metabolism may modulate the risk of head and neck cancer, however, these results need to be demonstrated in different populations.
- Published
- 2012
7. BIOMOTRICITY ROUNDTABLE--GENÔMICA E FISIOLOGIA MOLECULAR DO EXERCÍCIO E DO ESPORTE
- Author
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Katayama Yamada, André, Bertuzzi, Rômulo, Costa Leite, Tiago, Prestes, Jonato, and Bueno Junior, Carlos Roberto
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EXERCISE physiology ,GENES ,MOLECULAR biology ,SPORTS ,GENOMICS ,BODY movement - Abstract
Copyright of Brazilian Journal of Biomotricity is the property of Brazilian Journal of Biomotricity and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2013
8. Análise de polimorfismos em genes relacionados à virulência e resistência de Streptococcus suis em uma população suína.
- Author
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Carvalho, Fábio Santos, Vinhas Costa, Ana Elisa Del'Arco, and Wenceslau, Amauri Arias
- Subjects
STREPTOCOCCUS ,MORTALITY ,DNA polymerases ,GENES ,SEROTYPES ,PROTEINS - Abstract
Background: Streptococcus suis is a bacterium that causes several diseases in swines and can infect humans; in addition, it represents an important risk factor for professionals from this area. In cases of outbreak, despite some animals may remain as asymptomatic disease carriers, mortality can vary between 4 and 14%. Virulence of this bacterium may be associated with different serotypes exist, as well as with cellular proteins present in the capsule, or by mutations in the genomes of different serotypes, or even between samples of the same serotype. The strains of serotype 2 are considered to be the most virulent, although they can have moderate virulence, or even being less virulent. The objective of this work is to analyze genetic variability in S. suis samples. Materials, Methods & Results: Forty S. suis samples provided by the Laboratório Microvet (Minas Gerais, Brazil) and isolated between 1995 and 2003 on a farm located in Ponte Nova, MG, have been used. The lyophilized samples were reactivated in BHI, for 24 h, at 37°C; after that, they were cultivated and isolated in Todd Hewitt nutrient medium plus agar-agar and 10% defibrinated sheep blood and kept at 37°C, for 18 h. Serotyping of samples was conducted by Microvet and the data was compiled for comparison with the results. Genomic DNA was extracted from 3x10 cells, using DNAzol kit (Invitrogen), under the protocol proposed by the manufacturer, followed by PCR individually for each primer pair - dpr and aroA, using 200 µM dNTP, 3.4 mM MgCl2, 2 U of Taq DNA polymerase (Invitrogen), 1.6x amplification buffer and 0.20 µM of the primers in a final volume of 25 µL. The annealing temperature was 59°C, for aroA gene, and 60°C, for dpr gene. The amplified fragments of genes were digested with 0.2 µL of the restriction enzymes Alu I, AflIII, EcoRI and MPS I, at 37°C, for 2 h. All products were analyzed by separation on 3% agarose gel. Eight in the forty samples analyzed showed polymorphisms in the dpr gene for cleavage site of Alu I enzyme, thus generating samples with two and three DNA fragments. Analysis with the other endonucleases does not show differences; besides, no cleavage has occurred in the fragment. All samples analyzed for the aroA gene were observed to be identical for the cleavage sites of the used enzymes. During the analysis of serotypes, 39 (97.5%) samples were identified as type 2 and one (2.5%) as type 3. Discussion: The dpr gene showed different patterns between the assessed S. suis colonies, what indicates the existence of polymorphisms in the restriction sites. These data partially corroborate those already reported in the literature, where the percentage of amino acid polymorphisms was 17.9% in the dpr gene. In this study, changes identified in the dpr gene are not conclusive; still, modifications in nucleotide bases of certain genes may be related to expressions of differential proteins, associated with pathogenicity and virulence of pathogens. Even with the use of antibiotics and hygienic-sanitary control measures, records of difficult-to-control outbreaks are constant in the swine populations from which the samples were isolated. The sample of serotype 3 was collected from healthy animal, whereas the serotype 2 samples were collected from sick animals. These factors reinforce the idea that alterations in genomes of bacteria may be establishing new mechanisms to escape, hence favoring the survival of pathogens. [ABSTRACT FROM AUTHOR]
- Published
- 2011
9. Prevalence of HFE gene mutation in patients with porphyria cutanea tarda University Hospital Pedro Ernesto-UERJ
- Author
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Silva, Roberto Souto da, Carneiro, Sueli Coelho da Silva, Alves, Rogério Lopes Rufino, Durães, Sandra Maria Barbosa, and Fonseca, João Carlos Macedo
- Subjects
Porfiria cutânea tardia ,Genes ,CIENCIAS DA SAUDE::MEDICINA [CNPQ] ,Porphyria cutanea tarda ,Hemochromatosis ,Dermatologia ,Gene ,Hemocromatose ,Transtornos de fotossensibilidade - Abstract
Submitted by Boris Flegr (boris@uerj.br) on 2021-01-05T19:41:36Z No. of bitstreams: 1 DISSERTACAO_FINAL_Roberto_Souto_da_Silva.pdf: 1376903 bytes, checksum: 5c8cced74c746fae9eb9b9e5edb5aca5 (MD5) Made available in DSpace on 2021-01-05T19:41:36Z (GMT). No. of bitstreams: 1 DISSERTACAO_FINAL_Roberto_Souto_da_Silva.pdf: 1376903 bytes, checksum: 5c8cced74c746fae9eb9b9e5edb5aca5 (MD5) Previous issue date: 2013-11-01 Porphyria cutanea tarda (PCT) is a dermatological disorder characterized by photosensitivity induced by circulating porphyrins being deposited on the skin. Both the familial form, as sporadic disorders are dependent on the accumulation of iron. Although the cause of this excess hepatic iron is still unknown, the presence of the mutation of the hemochromatosis gene (HFE) is an important risk factor for iron accumulation. Likewise, little is known about the association between HFE gene mutation and porphyria cutanea tarda. In this paper we describe the main frequencies of genotypes and alleles of the gene for hemochromatosis HFE1 in a cohort of 25 patients treated at a dermatology outpatient clinic with Porphyria Cutaneous Late during the period of 1990-2012, performing a correlation with the presence of this mutation and iron overload in these patients. This study used a control group matched for age, sex and ethnic group reported, to compare with the data evaluated in patients with PCT. The research of genetic mutations C282Y and H63D mutations of the hemochromatosis gene occurred through real-time PCR results and ratified by Sanger sequencing. Results found no statistically significant differences in allele and genotype frequencies of the C282Y and H63D between the PCT cohort and population control. However, there is a strong indication of the participation of the H63D mutation in a patient homozygous for disease development, as noted in the literature. Of biochemical analysis, ferritin levels found among patients with PCT with the H63D mutation were higher than those without the mutation. A Porfiria Cutânea Tardia (PCT) é uma desordem dermatológica, caracterizada por fotossensibilidade induzida pela circulação de porfirinas que se depositam na pele. Tanto a forma familial como a esporádica são desordens dependentes do acúmulo de ferro. A presença da mutação do gene da Hemocromatose (HFE) é um importante fator de risco para o acúmulo de ferro e pouco se sabe sobre sua prevalência na população brasileira. Da mesma forma, existem poucos relatos a respeito da associação entre mutação do gene HFE e Porfiria Cutânea Tardia. No presente trabalho descrevemos as frequências dos principais alelos e genótipos do gene da Hemocromatose HFE1 em uma coorte de 25 pacientes brasileiros atendidos no HUPE, com Porfiria Cutânea Tardia, durante o período de janeiro 1990 à dezembro 2012, realizando uma correlação da presença desta mutação com a sobrecarga de ferro neste grupo de pacientes. Neste estudo foi utilizado um grupo controle da população fluminense pareado por idade, sexo e grupo étnico informado, para comparar com os dados avaliados dos pacientes com PCT. A pesquisa das mutações genéticas C282Y e H63D do gene da hemocromatose ocorreu através de técnicas de PCR tempo real e e os resultados ratificados por sequenciamento de Sanger. Dos resultados encontrados, não ocorreram diferenças estatísticas significativas nas frequências alélicas e genotípicas das mutações C282Y e H63D entre a coorte com PCT e a população controle. Entretanto, há um forte indício da participação da mutação H63D em um paciente homozigoto, para desenvolvimento da doença, conforme observado na literatura. Dos ensaios bioquímicos, os níveis de ferritina encontrados entre os pacientes portadores de PCT com a mutação H63D foram maiores que os indivíduos sem a mutação.
- Published
- 2013
10. Expressão de genes de características agronômicas em Feijão-CAUPI
- Author
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Citadin, Cristiane Teresinha and Aragão, Francisco José Lima
- Subjects
Genes ,Engenharia genética ,Feijão-de-corda ,Biologia molecular - Abstract
Tese(doutorado)—Universidade de Brasília, Departamento de Biologia Celular, Pós-Graduação em Biologia Molecular, 2011. O feijão-caupi (Vigna unguiculata L. Walp) é uma leguminosa de grande importância na alimentação humana, e tem sido alvo de melhoramento clássico por décadas, no entanto, algumas características, como resistência a estresses bióticos e teores de aminoácidos sulfurados em sementes, ainda não puderam ser incorporados. Nas últimas três décadas, uma série de tentativas foi realizada com intuito de desenvolver protocolos reprodutíveis na geração de feijão-caupi transgênico que permitam a expressão de genes de importância agronômica, especialmente aqueles que não foram incorporados pelo melhoramento clássico. No momento atual, vários pesquisadores têm estabelecido com sucesso procedimentos para transformação genética de feijão-caupi. Neste trabalho é relatada a obtenção de feijão-caupi transgênico resistente ao herbicida Imazapyr. Para isso, foram utilizados vetores contendo um cassete de expressão constitutivo da enzima AtAHAS. Estas plantas foram transformadas pela técnica de biobalística e um total de 16 linhagens transgênicas confirmadas por análises de Southern blot. Bioensaios para determinar a tolerância ao herbicida foram realizados usando diferentes concentrações de imazapyr. Algumas linhagens mostraram alta tolerância, sobrevivendo em até 400g/ha de imazapyr e não apresentando sintomas ao herbicida, demonstrando que o gene Atahas é capaz de gerar tolerância a herbicida a Imazapyr em feijão-caupi. Também é reportado neste trabalho, a introdução do gene de uma δ-zeína do milho (Zea mays) de 18 kDa (dzs18), que é rica em resíduos aminoácidos de metionina. Análises de Southern blot confirmaram a introdução do transgene no genoma da planta em múltiplos loci. No entanto, a segregação na progênie ficou próxima de uma razão de 1:1, sugerindo interferência na produção de gameta. Análises de expressão da proteína em sementes da única planta transgênica segregante foram negativas. Assim sendo, neste trabalho não foi possível analisar aumento dos níveis de metionina na semente. Não é possível concluir ainda o motivo da não expressão da δ-zeína em caupi, necessitando da geração de um número maior de eventos transgênicos segregantes. Dentre as plantas transformadas para expressar o gene dzs18, duas apresentaram fenótipo de esterilidade juntamente com multibrotação, multifloração e escasso número de folhas. Essas observações levaram a questionar se as mutações eram devido ao um efeito do transgene ou de mutagênese insercional, além de questionar que alterações nas flores poderiam estar levando ao fenótipo de esterilidade. Análises de Southern blot mostraram a presença de múltiplas cópias do transgene, aumentando as chances de que o fenótipo observado esteja relacionado com mutagênese insercional. Análise de polens e óvulos mostrou sérias alterações, além de indeiscência das anteras, explicando o fenótipo de esterilidade, concluindo tratar-se de alterações na maturação dos gametas. RT-PCR das folhas confirmou a presença de transcritos do transgene, sugerindo que as alterações podem estar relacionadas também com a expressão da δ-zeína. Os dados gerados não são capazes de confirmar se as mutações se devem ao transgene ou a mutagênese insercional, por isso mais análises precisam ser realizadas, incluindo a geração de mais eventos para esse transgene. Para isso também, bibliotecas de Genome walking foram confeccionadas para futura análise e correlação entre os lócus de inserção do transgene no genoma de feijão-caupi. _________________________________________________________________________________ ABSTRACT The cowpea (Vigna unguiculata L. Walp) is a legume of great importance for human nutrition. Some characteristics, such as resistance to biotic stress and levels of sulfur amino acids in seeds, have not yet been incorporated by the classical breeding. In the last three decades several attempts were made in order to develop reproducible protocols for generation of transgenic cowpea plants, allowing the expression of genes of agronomic importance. At the present, several researchers have successfully established procedures for genetic transformation of cowpea, presenting evidence of stable transgene integration, which segregated in a Mendelian fashion. In this work it is reported the obtaintion of transgenic cowpea lines resistant to the imidazolinone herbicide group. For this, we used vectors containing a cassette for the AtAHAS enzyme constitutive expression. These lines were transformed by the biolistic system and a total of 16 transgenic lines was confirmed by Southern blot analysis. Bioassays to determine the tolerance to herbicide was carried out using different concentrations of imazapyr. Some lines showed high tolerance, surviving to 400g/ha imazapyr and presenting no herbicide symptoms. Different levels of tolerance could not be associated to the integrity of the expression cassette. It is also reported in this paper, the introduction in cowpea of an 18 kDa δ-zein gene of maize (Zea mays), which is rich in methionine amino acid residues. Southern blot analysis confirmed the introduction of the transgene into the plant genome at multiple loci. However, the segregation in the progeny did not occurred as expected, being closed to a segregation ration of 1:1, suggesting interference with the production of gametes. Analysis of protein expression in transgenic seeds of single plant segregating was negative. Thus, was not possible to analyze increased levels of methionine in the seed. It is not yet possible to conclude the reason for the negative expression of δ-zein in cowpea, necessitating the generation more number of segregating transgenic events. Among the plants transformed to express the δ-zein gene, two of then showed a sterility phenotype with multiple formation of both shoots and flowers. In addition, a small number of leaves was also observed. These lines had multiple copies of the transgene integrated into the genome, as observed in the Southern blot analysis, increasing the chances that the observed phenotype is related to insertional mutagenesis. Analysis of pollen and ovules showed serious change, and indehiscence anthers, explaining the phenotype of sterility, concluding that it is changes in the gametes maturation. RT-PCR confirmed the presence of sheets of transcripts of the transgene, suggesting that the changes may also be related to the expression of δ-Zein. The data generated are not able to confirm if mutations are due to the transgene or insertional mutagenesis, so further analysis must be performed, including generation of more transgene events. Genome walking libraries were prepared for further analysis and correlation between the locus of insertion of the transgene in the genome of cowpea.
- Published
- 2011
11. Estudo de mutações no gene SEPN1 em pacientes brasileiros portadores de miopatias e distrofias musculares congênitas
- Author
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Eralda Luiza Castro Concnetino and Juliana Gurgel Giannetti
- Subjects
Deminopatia com mallory body ,Doenças musculares ,Anormalidades congênitas ,Genes ,Miopatias relacionadas à selenoproteína N ,Miopatia multiminicore ,Distrofia muscular ,Revisão ,Miopatia com desproporção congênita de fibras ,Selenoproteínas ,Distrofias musculares/congênito ,congênita tipo espinha rígida - Abstract
Introdução: diferentes formas de miopatias estão relacionadas ao gene da selenoproteína N, entre as quais a distrofia muscular congênita tipo espinha rígida (DMER), miopatia multiminicore (DMm), desmiopatia com mallory body e miopatia com desproporção congênita de fibras (MDCF). Até o momento, não há estudos nacionais sobre mutações no gene SEPN1 em pacientes brasileiros com miopatias relacionadas à selenoproteína N. O presente estudo é uma dissertação de mestrado apresentada na forma de dois artigos científicos: o primeiro, uma revisão da literatura sobre miopatias relacionadas à selenoproteína N; e o segundo mostra os resultados do estudo do gene SEPN1 em pacientes brasileiros com tais afecções. Objetivo: avaliar a presença de mutações no gene SEPN1 em paciente brasileiros com miopatias relacionadas à selenoproteína N e correlacionar os achados clínicos, histopatológicos e genéticos. Metodologia: pacientes portadores de miopatias relacionadas ao gene SEPN1 foram submetidos a: avaliação clínica, dosagem de creatinofosfoquinase (CPK), eletroneuromiografia (ENMG) e biópsia muscular com estudo histoquímico por ocasião do diagnóstico. Realizou-se protocolo de pesquisa, no prontuário, dos dados clínicos dos pacientes. Fez-se revisão da histopatologia muscular dos pacientes incluídos na pesquisa bem como estudo molecular dos pacientes, de alguns familiares e de controles normais, pela técnica de reação em cadeia da polimerase (PCR) e sequenciamento do gene SEPN1. Resultados: incluíram-se 18 pacientes de 16 famílias diferentes. Desses, 10 foram classificados como portadores de DMER, sete com DMm e um com MDCF. O estudo molecular revelou mutações em seis famílias. Família 1: um paciente com fenótipo clássico de DMm, com mutação em heterozigose composta (cG1010T/cT1384G). Famílias 2 e 3: dois pacientes não aparentados, com fenótipo de DMER, com inserção de uma base fora de fase em heterozigose (c713- 714insA). Família 4: um paciente com MDCF com inserção de 12 bases em fase (c316-317Ins12bp). Família 5: um paciente com DMm forma pré-natal com artrogripose e mutação com sentido trocado em heterozigose (cG583A), cuja alteração complementar não foi identificada. Família 6: três irmãos afetados com quadro de miopatia e rigidez cervical, nos quais foi identificada uma inserção em fase, de três pares de base, em heterozigose (c438-439ins3bp). Conclusão: as miopatias relacionadas à selenoproteína N apresentaram amplo fenótipo clínico e histopatológico. Das seis mutações encontradas, duas (c713-714insA e cT1384G) estavam descritas na literatura como patogênicas, em pacientes com DMER e DMm. Das outras quatro não houve registros. A mutação cG1010T foi detectada em heterozigose composta com a mutação patogênica cT1384G em um paciente com DMm, sendo considerada, devido às suas características e ausência em controles normais, mutação nova patogênica. A mutação c438-439ins3bp é umpolimorfismo, pois foi encontrada em homozigose em um dos pais assintomáticos e em 2% dos controles normais. As outras duas mutações cG583A e c316- 317Ins12bp requerem mais estudos para melhor esclarecimento de sua patogenicidade. O estudo molecular pode auxiliar na confirmação do diagnóstico, bem como no aconselhamento genético familiar Introduction: different kinds of myopathy are related to the selenoprotein N gene, among which: congenital muscular dystrophy with rigid spine (RSMD) multiminicore myopathy (MmD), desminopathy with Mallory body and congenital fiber-type disproportion myopathy (CFTD). Until the present moment there aren´t national studies that evaluated mutations in the gene SEPN1 in brazilian patients with myopathy related to selenoprotein N. This study is a dissertation and will be presented in the form of two papers: the first, a literature review of myopathies related to selenoprotein N and the second shows the results of the study of SEPN1 gene in Brazilian patients with such condictions. Objective: to evaluate the presence of mutations in the SEPN1 gene in Brazilian patients with myophathies related to selenoprotein N and to correlate the clinical, histopathological and genetic findings. Methodology: patients with myopathies related to SEPN1 gene were submited to: clinical evaluation, measurement of creatinephosphokinase (CPK), electromyography (ENMG) and muscle biopsy with histochemistry study because of diagnosis. We conducted a research protocol, through the medical record and clinical data of patients. We reviewed the muscle histopathology of patients included in the research and molecular study of patients, some family members and normal controls, by technique of polymerase chain reaction (PCR) and sequencing of the gene SEPN1. Results: Were included eighteen patients from sixteen different families. This patients ten were classified with, seven patients were classified with MmD and one patient with CFTD. The molecular analysis revealed mutations in six families. Family 1: A patient with classic phenotype of MmD with compound heterozygous mutation (cG1010T/cT1384G). Family 2 and 3: Two patients unrelated with RSMD phenotype with insertion of a base out of phase in heterozygous (c713- 714insA). Família 4: One patient with CFTD showed insertion of 12 bases in phase (c316-317 Ins.12bp). Family 5: One patient with MmD prenatal form with arthrogryposis showed a missense mutation in heterozigose (cG583A) in which the complementar change was not identified. Family 6: Three affected siblings with myopathy and stiff neck which was identified one insertion in phase of three base pairs in heterozygous (c438-439ins3bp). Conclusion: Myopathies related to selenoprotein N have a wide clinical phenotype and histology. Among the six mutations found two (C713-714insA and cT1384G) had previously been described in the literature as pathogenic in patients with DMER and MmD. The others four changes were not found descriptions in the literature. The mutation cG1010T was found in compound heterozygous with the pathogenic mutation cT1384G in a patient with MmD, being considered due to theircharacteristics and absence in normal controls, a new pathogenic mutation. The mutation c438-439ins3bp, is a polymorphism because it was found homozygous in a parent asymptomatic and in 2% of normal controls.The other two mutations cG583A and c316-317Ins12bp require further studies for better elucidation as to its pathogenicity. The molecular analysis can help confirm the diagnosis, as well as genetic counseling of families
- Published
- 2011
12. Genetic variations and population differentiation in four species of shrikes based on mitochondrial (Mt) DNA cytochrome oxidase B gene/Variações genéticas e diferenciação populacional em quatro espécies de picanços com base no dna mitocondrial (Mt) gene da citocromo oxidase
- Author
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Muhammad, Shahbaz, Imtiaz, Ayesha, Ruby, Tahira, and Khan, Aleem Ahmed
- Published
- 2024
- Full Text
- View/download PDF
13. Application of biological chip technology in sports field
- Author
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Ming, Shi
- Published
- 2016
- Full Text
- View/download PDF
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