家族性肥厚型心肌病致病基因的筛查分析

Candidate gene's screen analyse in one chinese family with familial hypertrophic cardiomyopathy

目的鉴定一个肥厚型心肌病家系的致病基因。方法根据肥厚型心肌病(HCM)已知的13个致病基因,每个基因选取3个微卫星(Marker)标记对该家系进行筛查分析,对不能排除的基因采取PCR—直接测序技术进行鉴定。结果13个候选基因中仅CRP3不能被排除,测序未发现该基因外显子有任何突变。结论已知的13个肥厚型心肌病致病基因不是该汉族家系的致病基因,该HCM家系很可能由一新的致病基因突变所致。

Objective To identify the mutation gene in one chinese family with hypertrophic eardiomyopathy. Methods According to the 13 candidate genes of HCM,we select 3 microsatellites to each one of them to carried out screen analysis, PCR-DNA direct sequencing was performed on the gene can＇t be excluded. Results In the 13 candidate genes of HCM,only CRP3 can＇t be excluded,but PCR-DNA direct sequencing cant＇t find any positive finding. Conclusion The 13 candidate genges are not linked to FHCM in the Han Chinese family members.hypertrophic cardiomyopathy in this kindred maybe result from a new mutation gene.