新疆3个HCM家系MYH7基因突变DHPLC检测和DNA测序结果分析

DHPLC MYH7 gene mutation detection and analysis of DNA sequencing in 3 HCM families in Xinjiang

目的研究家族性肥厚型心肌病(HCM)的主要致病基因β肌球蛋白重链,MYH7突变情况。方法用变性高效液相色谱DHPLC检测和DNA测序方法对3个HCM家系成员的MYH7基因8、14外显子及附近上下游序列进行检测分析。结果 3个家系其中1个家系发现MYH7基因14外显子中存在Thr441Met突变,该突变在中国人中是首次发现,此外外显子8也存在1个点突变。另外两个家系也发现有不同位点的突变。结论运用变性高效液相色谱技术和DNA直接测序技术能实现对家族性肥厚型心肌病MYH7基因突变的筛查,有利于早期诊断、患病风险预测。

Objective To study familial hypertrophic cardiomyopathy（HCM＇s） main pathogenic gene beta myosin heavy chain beta-myosin heavy chain gene and MYH7 mutation.Methods Denaturing high performance liquid chromatography with DHPLC detection and DNA sequencing method were used to deted 3 HCM family members of the MYH7 gene exon 8,14 and the downstream nearby sequence.Results One family was found Thr441Met mutation at exon 14 of MYH7 gene,in addition there was a point mutation at exon 8.Two other families were also found to have different point mutations.Conclusions The application of denaturing high performance liquid chromatography and direct DNA sequencing technology can realize to familial hypertrophic cardiomyopathy mutation screening of MYH7 gene,facilitates the early diagnosis,risk prediction.