| Object To study the cardiac myosin-binding protein C (MYBPC3) gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) , try to find the hot mutation point,and to analyze the correlation between the genotype and phenotype.Methods Specimens of peripheral blood were collected from 12 unrelated Chinese pedigrees with hypertrophic cardiomyopathy,who had been screened in the functional regions of myosin heavy chain gene (MYH7), cardiac troponin T gene (TNNT2) and cardiac troponin I gene (TNNI3), and no mutation was identified. The genome DNA was extracted. The 2～35 exons in the functional regions of the MYBPC3 gene were amplified with PCR, and the products of the 12 Chinese pedigrees with HCM and 110 normal control subjects without consanguinity were sequenced. Results of DNA sequenced were analyzed and Mutation site were determined. The clinical data of this family were collected and the correlation between genotype and phenotype was analyzed.Results Mutations were found in 2 out of 12 pedigrees. A frame shift mutation- Pro459fs mutation- was identified in exon 17 in one family, and one splicing mutation- IVS5+5G>C mutation- was identified in intron 5 in another family with HCM. The mutation of Pro459fs and IVS5+5G>C were firstly identified in Chinese, while the result of genetic test were normal in 110 controls. Besides, polymorphisms were found in 12 Chinese pedigrees: a G2484C polymorphism on intron 3, a C1001T polymorphism on intron 13, a C15148G polymorphism on intron 24, a 3747insC polymorphism on intron 5, an AGC-GGC polymorphism on codon 236, a GTC-GTT polymorphism on codon 26, and a GAA-GAG polymorphism on codon 1096.Conclusions In this study, two mutations of MYBPC3 gene had been confirmed among 12 HCM families. Compared to what reported abroad, the mutation in cardiac myosin-binding protein C may have different characteristics in Chinese patient with hypertrophic cardiomyopathy.
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