Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular disorders. Mutations in the MYBPC3 gene are one of the most frequent genetic causes of HCM.

Objectives

To screen MYBPC3 gene mutations in Chinese patients with HCM, and analyze the correlation between the genotype and the phenotype.

Methods

The 35 exons of the MYBPC3 gene were amplified by polymerase chain reaction in the 11 consecutive unrelated Chinese pedigrees. The sequences of the products were analyzed and the mutation sites were determined. The clinical data of genotype-positive families were collected, and the correlation between genotype and phenotype was analyzed.

Results

Two mutations of the MYBPC3 gene were confirmed among 11 pedigrees. A frameshift mutatio

SUBMITTER: Lin J 

PROVIDER: S-EPMC3006099 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature