Simpson N E
Can J Genet Cytol. 1980;22(4):497-506. doi: 10.1139/g80-057.
The genetics of diabetes mellitus in man has been reviewed. The evidence for genetic heterogeneity on clinical, biochemical and HLA (histocompatibility leukocyte antigens) data is presented. An attempt is made to interpret the meaning of the associations of the disease and certain HLA antigens and the complement factor, properdin in populations and in families. The population data can be best explained by the linkage disequilibrium hypothesis requiring tight linkage between the DS (diabetes susceptibility) locus and those in the MHC (major histocompatibility complex). Linkage between the DS locus and MHC from family data is estimated to be about 14%, which is not likely tight enough to be compatible with the population data; and a one locus or one allele hypothesis and genetic heterogeneity is postulated as the best explanation of the incompatibility between population and family data. It is still impossible to precisely define the exact genetic hypothesis for diabetes in man.
对人类糖尿病的遗传学进行了综述。阐述了临床、生化和HLA(组织相容性白细胞抗原)数据方面存在遗传异质性的证据。试图解释在人群和家族中该疾病与某些HLA抗原及补体因子备解素之间关联的意义。群体数据可以用连锁不平衡假说来最好地解释,该假说要求糖尿病易感性(DS)位点与主要组织相容性复合体(MHC)中的位点紧密连锁。根据家族数据估计,DS位点与MHC之间的连锁约为14%,这可能不够紧密,无法与群体数据相符;因此推测单一位点或单等位基因假说及遗传异质性是群体数据与家族数据不相容的最佳解释。目前仍无法精确界定人类糖尿病的确切遗传假说。