Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 387-392, 2011.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-326927
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>Exons 3, 5, 7-9, 11-16 and 18-23 of the MYH7 gene were amplified with PCR in three Chinese pedigrees with HCM. The products were sequenced. Sequence alignment between the detected and the standard sequences was performed.</p><p><b>RESULTS</b>A missense mutation of Thr441Met in exon 14 was identified in a pedigree, which was not detected in the controls. Several synonymous mutations of MYH7 gene were detected in the three pedigrees.</p><p><b>CONCLUSION</b>The mutation of Thr441Met, located in the actin binding domain of the globular head, was first identified in Chinese. It probably caused HCM. HCM is a heterogeneous disease. Many factors are involved in the process of its occurrence and development.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Cardiomiopatia Hipertrófica
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Análise Mutacional de DNA
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Dados de Sequência Molecular
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Sequência de Bases
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Química
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Sequência de Aminoácidos
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Cadeias Pesadas de Miosina
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Miosinas Cardíacas
Tipo de estudo:
Estudo prognóstico
Limite:
Animais
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Feminino
/
Humanos
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Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo