[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].
作者： Hu WANG , Yu-Bao ZOU , Lei SONG , Ji-Zheng WANG , Kai SUN
DOI: 10.3724/SP.J.1005.2009.00485
关键词:
摘要: To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM), peripheral blood samples were collected from 7 members of a HCM family, and 120 normal subjects recruited as control. The full encoding exons flanking sequences cardiac troponin T (TNNT2) gene, beta-myosin heavy chain (MYH7) gene myosin binding protein C (MYBPC3) amplified products sequenced directly to detect mutations. A missense mutation, c.1273G>A, was identified exon 14 MYH7 4 which resulted glycine (Gly) arginine (Arg) exchange at amino acid residue 425. 425th is highly conservative across different species. clinical phenotypes among family who carried this mutation presented significant individual differences. c.1273G>A might be causal HCM. heterogeneity suggested that multiple factors may involved pathogenesis
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