一家族性肥厚型心肌病大家系β肌球蛋白重链基因突变筛查

目的研究一汉族家族性肥厚型心肌病（FHCM）家系患者的致病基因突变位点，分析其基因型与表型的关系。方法收集到一个规模较大的FHCM家系，共5代89位成员，采集到67份血样。用Primerexperss2．0软件设计引物，分别扩增β肌球蛋白重链（MYH7）基因的各外显子及相邻内含子区，产物纯化后应用美国ABIPRISM3700DNA自动测序仪进行测序，其后用Autoassembler2．0软件将测序结果与MYH7的基因组序列进行比较分析。结果该家系共有14例患者，4例已经去世，其中2例是年轻时猝死。在世的10例患者的左心室壁厚度均〉13mm。符合常染色体显性遗传病的特点。经突变筛查，发现3处碱基改变，经检索NCBISNP数据库，这些碱基改变均为多态性。结论MYH7基因不是该家系的致病基因，反映了HCM的遗传异质性，需要对其他可能的候选致病基因进行筛查。

Mutation screening of MYH7 gene in a chinese pedigree with familial hypertrophic cardiomyopathy

Objective To identify the disease-causing gene mutation and investigate the genotype- phenotype correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy. Methods In this study we collected a large muhigenerational Chinese family with FHCM. Total genome DNA was extracted from 67 subjects＇ peripheral leucocytes. The exons and boundary introns of MYH7 gent was amplified by PCR and directly sequenced by ABI PRISM 3700 DNA sequencer. Then, the mutation was examined. Results Fourteen family members had hypertrophic cardiomyopathy, including 4 deceased 2 of whom died from sudden death at young age. Analysis by echocardiography showed all the 10 living affected individuals have a maximal left- ventricular-wall thickness of at least 13 mm. Three single nucleotide polymorphisms （SNP） which had been reported in NCBI SNP database, were found mutated. No mutation co-seperated with the disease was identified. Conclusion FHCM of this family was not caused by MYH7 mutation. Other genes should be screened to further identify the disease-causing gene mutation in hypertrophic eardiomyopathy.