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Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 514-518, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335093
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the phenotype-genotype correlation of MYH7-V878A mutation.</p><p><b>METHODS</b>Exonic amplification and high-throughput sequencing of 96-cardiovascular disease-related genes were carried out on probands from 210 pedigrees affected with hypertrophic cardiomyopathy (HCM). For the probands, their family members, and 300 healthy volunteers, the identified MYH7-V878A mutation was verified by Sanger sequencing. Information of the HCM patients and their family members, including clinical data, physical examination, echocardiography (UCG), electrocardiography (ECG), and conserved sequence of the mutation among various species were analyzed.</p><p><b>RESULTS</b>A MYH7-V878A mutation was detected in five HCM pedigrees containing 31 family members. Fourteen members have carried the mutation, among whom 11 were diagnosed with HCM, while 3 did not meet the diagnostic criteria. Some of the fourteen members also carried other mutations. Family members not carrying the mutation had normal UCG and ECG. No MYH7-V878A mutation was found among the 300 healthy volunteers. Analysis of sequence conservation showed that the amino acid is located in highly conserved regions among various species.</p><p><b>CONCLUSION</b>MYH7-V878A is a hot spot among ethnic Han Chinese with a high penetrance. Functional analysis of the conserved sequences suggested that the mutation may cause significant alteration of the function. MYH7-V878A has a significant value for the early diagnosis of HCM.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fenótipo / Cardiomiopatia Hipertrófica / Sequência de Aminoácidos / Cadeias Pesadas de Miosina / Miosinas Cardíacas / Povo Asiático / Estudos de Associação Genética / Genética / Genótipo Tipo de estudo: Estudo prognóstico / Estudo de rastreamento Limite: Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fenótipo / Cardiomiopatia Hipertrófica / Sequência de Aminoácidos / Cadeias Pesadas de Miosina / Miosinas Cardíacas / Povo Asiático / Estudos de Associação Genética / Genética / Genótipo Tipo de estudo: Estudo prognóstico / Estudo de rastreamento Limite: Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo