家族性肥厚型心肌病家系的HLA分型及其临床意义探讨  

The HLA TYPING IN FAMILIES WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY AND ITS CLINIC SIGNIFICANCE

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

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

出　　处：《中国现代医学杂志》1998年第7期1-3,共3页China Journal of Modern Medicine

基　　金：本课题为国家自然科学基金资助

摘　　要：家族性肥厚型心肌病是常染色体显性遣传病，该文报导家族性肥厚型心肌病（ＦＨＣ）３个家系，并对３个家系中全部成员进行ＨＬＡＤＱＡ１－ＤＱＢ１基因分型，确定其以ＤＱＡ１－ＤＱＢ１单倍型。结果显示３个家系中，每个家系的第Ⅱ代所有患病同胞与第Ⅰ代表病双亲间共有一个相同的ＤＱＡ１－ＤＱＢ１单倍型，而第Ⅱ代未患病同胞则不带有这个单倍型。Familial hypertrophic cardiomyopathy is an idiopathic disorder of the myocardium with an autosomal cominant pattern of inheritance. In this paper three kindreds of familial hypertrophic ardiomyopathy and HLA DQA1 /DGB1 haplotypes in all members of these three kin- dreds were reported. The results show that all affected sibs(second generation)and their affected parent (first generation)share a DQA1/ DQB1 haplotype, and the unaffected sibs do not share it.The members in third generation sharing the same haplotype could be regarded as high risk members who should be clinically followed .

关 键 词：家族性 肥厚型 心肌病 家系HLA单倍型 单倍型 

分 类 号：R542.202[医药卫生—心血管疾病]