家族性甲状腺机能亢进症的遗传学研究

GENETIC STUDY OF FAMILIAL HYPERTHYROIDISM

本文对41个具有甲亢家族史的家族进行了家系调查、遗传方式、遗传度分析、HLA关联分析等遗传学研究。结果发现,本病遗传加权平均值为62.04±9.22%,并与HLA-Bw60、DR1、DQw1显著关联。提示:甲亢具有遗传基础,HLA基因区可能存在甲亢的易感基因,该病遗传方式符合多基因遗传。

This paper presents a systematic genetic study of hyperthyroidism (Graves' disease) in 41 families. The results showed: (1) the inherited mode of this disease did not correspond with Mendelian inheritance and Sex-linked inheritance. (2) The heritability was calculated for first- and second-degree relatives; the estimates obtained were 68.12% and 28.63%, the weighted mean of the heritability and standard error being 62.04±9.22%. (3)The HLA phenotypes Bw60, DR1, DQwl in hyperthyroidism(50 cases) were significantly higher than those in normal (100 cases) , P<0.005. The following HLA haplotypes showed linkage disequilibrium in hyperthyroidism. Thus, we suggest that this disease has a genetic base, that there is hyperthyroidism-susceptible gene close to the HLA genome and that the inherited mode of this disease accords with multifactorial inheritance.