The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy family / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 313-316, 2008.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-243786
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the disease-causing gene mutation in Chinese families with hypertrophic cardiomyopathy (HCM) and to analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>Samples of peripheral blood were collected from three Chinese families with HCM (at least two HCM patients existed/family). The exons in the functional regions of the beta myosin heavy chain gene (MYH7) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>A Val606Met missen mutation was identified in the exon 16 of MYH7 gene in a Chinese family and this mutation was identified in all HCM patients (n = 4) and there was also a 15-years-old young mutation carrier who was not HCM patient now (penetrance of 80%). This mutation was not identified in other healthy family members in this family, in other 2 Chinese familiar HCM families and in 120 non-HCM control patients.</p><p><b>CONCLUSION</b>The Val606Met missen mutation is closely associated with familiar HCM in a Chinese family which is associated with clinical phenotype with a penetrance of 80%.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Sequência de Bases
/
Éxons
/
Cadeias Pesadas de Miosina
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Mutação de Sentido Incorreto
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Cardiomiopatia Hipertrófica Familiar
/
Miosinas Cardíacas
/
Genética
/
Genótipo
Limite:
Adolescente
/
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Cardiology
Ano de publicação:
2008
Tipo de documento:
Artigo