安徽地区汉族人家族性与散发性肥厚型心肌病MYH7基因18及20号外显子突变分析

目的分析安徽地区汉族家族性及散发性肥厚型心肌病(HCM)患者的致病基因β肌球蛋白重链(MYH7)突变位点的异同。方法对3个家系中8例HCM患者及20例散发的HCM患者进行MYH7基因18及20号外显子扫描,双脱氧末端终止法测序。结果3个家族性HCM(FHCM)家系8例患者中,有2例患者发现MYH7基因20号及18号外显子发生突变,分别为20号外显子发生Arg723Gly突变;18号外显子发生Arg663His突变;散发的20例HCM患者中,有1例发现MYH7的20号外显子上发生Ile736Thr突变,未发现18号外显子发生突变。结论MYH7基因中18号、20号外显子突变可能是安徽地区FHCM的常见突变位点之一;散发性HCM(SHCM)可能与FHCM具有相似的发病机制,但与FHCM相比,在MYH7基因中突变率较低。

Analysis of 18 and 20 exons mutation in MYH7 gene between patients with sporadic and familial hypertrophic cardiomyopathy in Anhui

Objective To analyze the gene mutation of the beta myosin heavy chain gene(MYH7)in the patients with familial and sporadic hypertrophic cardiomyopathy in Anhui.Methods Samples of peripheral blood were collected from eight patients with familial HCM(FHCM)and 20 patients with sporadic hypertrophic cardiomyopathy(SHCM)from different areas of Anhui province.The 18 and 20 protein-coding exons in the functional regions of MYH7 were amplified with PCR and the products were sequenced.Results 2 of the 8 FHCM patients harbored two different mutations in MYH7 gene,Arg723Gly in exon 20 and Arg663His in exon 18;one of the 20 SHCM patients harbored 1 mutation in MYH7 gene,Ile736Thr in exon 20.Conclusion Exon 20 and 18 may be the frequent disease-causing exons in MYH7 gene in FHCM of Anhui area;SHCM may be existed the similar pathogenesis to the FHCM,however,the mutation rate of MYH7 gene is significantly lower than FHCM.