家族性肥厚型心肌病易感基因的定位分析  

Location of the susceptible gene of familial hypertrophic cardiomyopathy

作　　者：张之炯[1,2] 张修武[1,2] 蒋冬贵 张利辉[1,2] 王文军[1,2] 

机构地区：[1]湖南医科大学附属湘雅医院心内科 [2]湖南医科大学分子药理研究室

出　　处：《中华心血管病杂志》1998年第3期178-180,共3页Chinese Journal of Cardiology

基　　金：国家自然科学基金

摘　　要：目的对肥厚型心肌病可能的致病基因或易感基因在染色体上的位置进行定位分析。方法应用ＰＣＲ／ＳＳＯ方法，分析４个家族性肥厚型心肌病家系的亲代和子１代ＨＬＡＤＱＡ１ＤＱＢ１单倍型，以Ｌｏｄｓ法分析未知的易感基因或致病基因与ＨＬＡＤＱ基因的连锁情况。结果发现家族性肥厚型心肌病的致病基因或易感基因与ＨＬＡＤＱＡ１与ＤＱＢ１单体型之间存在连锁，其图距为零分摩，提示易感基因与ＨＬＡＤＱＡ１与ＤＱＢ１之间距离很近。结论根据家系分析结果，初步认为家族性肥厚型心肌病的致病基因除βＭＨＣ突变之外，可能还存在一个易感基因，它位于ＨＬＡＤＱＡ１与ＤＱＢ１之间。Objective To locate the unknown susceptible gene of hypertrophic cardiomyopathy (HC) on the chromosome where the known DQ gene is located. Methods The HLA DQA1 DQB1 haplotype of all the members of four familial hypertrophic cardiomyopathy (FHC) kindreds with no β MHC mutations was worked out by PCR/SSO method. The Lods analysis method was used to set the linkage strength of the unknown susceptible gene of FHC and HLA DQ locus. Results The Lods analysis showed that there was a linkage between the susceptible gene of FHC and HLA DQ gene. Lods score was 2.41. The genetic distance (O) was 0.0. Conclusion The results of Lods analysis (Lods=2.41, O=0.0) suggest that a susceptible gene of hypertrophic cardiomyopathy might be nearby the HLA DQ locus. This indicates that the new susceptible gene of FHC is possibly located on chromosome 6 where HLA DQ is located.

关 键 词：家族性 肥厚型心肌病 易感基因 定位分析 心肌病 

分 类 号：R542.202[医药卫生—心血管疾病]