Mutations Profile In Chinese Patients With Hypertrophic Cardiomyopathy And Correlation Between Genotype And Phenotype

Object To study the disease-causing gene mutation in Chinese with HCM, and to analyze the correlation between the genetype and phenotype.Methods Specimens of peripheral blood were collected from 13 unrelated Chinese pedigrees and one twins with hypertrophic cardiomyopathy. The genome DNA was extracted. Single-strand conformation polymorphismgel analysis of the polymerase chain reaction-amplified products was conducted to search for mutations in the exons 3-26 of theβ-myosin heavy chain, in the exons 2-16 of the cardiac troponin T gene and in the exons 3,5,7,8 of the cardiac troponin I gene. The products of the 14 Chinese pedigrees with HCM and 80 age-matched normal control subjects were sequenced. Results of DNA sequenced were analyzed and Mutation site were determined.Results One mutation was indentified in exon 16 of MYH7 gene in one family with HCM. The mutation of Arg723Gly was firstly identified in chinese, while the result of genetic test were normal in eighty controls. In addition to an ATC-ATT polymorphism on codon 106 in the TNNT2 gene and an GAG-GAA polymorphism on codon 179 in the TNNI3 gene, there was no mutation detected in the 14 HCM pedigrees.Conclusions In this study, only one mutation of MYH7 gene had been confirmed among 14 HCM families. And no mutation have been found in the TNNT2 gene and TNNI3 gene. Compared to what reported abord , MYH7 accounts for 30%-50% and TNNT2 accounts for 10%-15%, the mutations may have different characteristics in Chinese patients with hypertrophic cardiomyopathy.