【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。

    Location of the susceptible gene of familial hypertrophiccardiomyopathy Zhang Zhijiong, Zhang Xiuwu, JiangDonggui, et al. The Xiangya Hospital, Hunan Medical University, Changsha 410078

     【Abstract 】 Objective To locate theunknown susceptible gene of hypertrophic cardiomyopathy (HC) on the chromosome where theknown DQ gene is located. Methods The HLA DQA1-DQB1haplotype of all the members of four familial hypertrophic cardiomyopathy (FHC) kindredswith no β-MHC mutations was worked out by PCR/SSOmethod. The Lods analysis method was used to set the linkage strength of the unknownsusceptible gene of FHC and HLA-DQ locus. Results TheLods analysis showed that there was a linkage between the susceptible gene of FHC andHLA-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 asusceptible gene of hypertrophic cardiomyopathy might be nearby the HLA-DQ locus. Thisindicates that the new susceptible gene of FHC is possibly located on chromosome 6 whereHLA-DQ is located.

     【Key words 】 HLA-DQ familialhypertrophic cardiomyopathy susceptible gene

     ......