Johnston C, Pyke D A, Cudworth A G, Wolf E
Br Med J (Clin Res Ed). 1983 Jan 22;286(6361):253-5. doi: 10.1136/bmj.286.6361.253.
A total of 106 pairs of identical twins, of whom 56 were concordant and 50 discordant for insulin-dependent diabetes, were typed for HLA-DR. In both the concordant and discordant groups there was a high prevalence of the antigens DR3 and DR4, a low prevalence of DR5 and DR7, and a virtual absence of DR2. The heterozygous phenotype DR3,DR4 was more prevalent in concordant than discordant pairs. This was therefore the first demonstration of a genetic difference between concordant and discordant identical twin pairs. These findings suggest that possession of both DR3 and DR4 antigens confers a greater genetic predisposition to insulin-dependent diabetes than does the possession of either antigen alone.
对总共106对同卵双胞胎进行了HLA - DR分型,其中56对双胞胎患胰岛素依赖型糖尿病的情况一致,50对不一致。在一致组和不一致组中,抗原DR3和DR4的患病率都很高,DR5和DR7的患病率较低,而DR2几乎不存在。杂合表型DR3,DR4在一致组双胞胎中比在不一致组中更普遍。因此,这是首次证明患胰岛素依赖型糖尿病情况一致和不一致的同卵双胞胎对之间存在基因差异。这些发现表明,同时拥有DR3和DR4两种抗原比单独拥有其中任何一种抗原会赋予更大的胰岛素依赖型糖尿病遗传易感性。