Domuschiev I P, Kuraeva T L, Sergeev A S, Iazdovskiĭ V V, Denisov L N, Maksimova V P, Smirnova O M, Romanovskaia G A
Probl Endokrinol (Mosk). 1994 Sep-Oct;40(5):11-3.
HLA haplotype distribution was analyzed in nuclear families of patients with insulin-dependent diabetes mellitus. Sixteen families with two or more diabetic siblings were examined, a total of 69 subjects, 33 of these diabetic siblings and 36 normal subjects (siblings and parents). The data were processed using the involved sibling pairs method based on a mixed model making use of a conditional probability approach. The ratio of diabetic sibling pairs concordant by 2 haplotypes, 1 haplotype, and discordant by 2 haplotypes was 9:5:2 vs. 1:2:1 expected according to Mendel's accidental distribution (p < 0.025). Increased incidence of siblings concordant by 2 haplotypes proves the presence in the HLA domain of one or several genes responsible for the development of diabetes mellitus. Siblings identical by two HLA haplotypes with the diabetic proband are at a higher risk of developing this disease.
对胰岛素依赖型糖尿病患者的核心家庭进行了HLA单倍型分布分析。检查了16个有两个或更多糖尿病兄弟姐妹的家庭,共69名受试者,其中33名是糖尿病兄弟姐妹,36名是正常受试者(兄弟姐妹和父母)。数据采用基于混合模型的受累同胞对法进行处理,该模型利用条件概率方法。按2个单倍型、1个单倍型一致以及2个单倍型不一致的糖尿病同胞对的比例为9:5:2,而根据孟德尔随机分布预期的比例为1:2:1(p < 0.025)。2个单倍型一致的兄弟姐妹发病率增加,证明在HLA区域存在一个或几个导致糖尿病发生的基因。与糖尿病先证者有两个相同HLA单倍型的兄弟姐妹患此病的风险更高。