Raum D, Awdeh Z, Alper C A
Immunogenetics. 1981;12(1-2):59-74. doi: 10.1007/BF01561651.
Insulin-dependent diabetes mellitus (IDDM) has been found to be highly associated with a rare allele of the complement protein, properdin factor B (BF). Assuming that there is a susceptibility gene for IDDM tightly linked to the genetic locus for BF and the major histocompatibility complex (MHC), the distribution of BF types in more than 1100 North American IDDM patients strongly argues for the rejection of dominant, epistatic, and overdominant modes of inheritance. Other evidence suggesting complex modes of inheritance for IDDM is reviewed and it is concluded that our observations and published data are consistent with the idea of susceptibility to IDDM being inherited as a simple autosomal recessive trait. C4 and C2 types, also linked to BF and the MHC, were investigated too. C4 Fs0 was found to be increased in association with BF F1, while C4 f0S and C2 b were each found to occur twice as frequently as in a control population and will be of value in defining haplotypes associated with susceptibility to IDDM.
胰岛素依赖型糖尿病（IDDM）已被发现与补体蛋白备解素因子B（BF）的一种罕见等位基因高度相关。假设存在一个与IDDM易感性基因紧密连锁的BF基因座以及主要组织相容性复合体（MHC），超过1100名北美IDDM患者中BF类型的分布有力地支持了对显性、上位性和超显性遗传模式的否定。本文还综述了其他提示IDDM复杂遗传模式的证据，并得出结论：我们的观察结果和已发表的数据与IDDM易感性作为一种简单常染色体隐性性状遗传的观点一致。同时也对同样与BF和MHC连锁的C4和C2类型进行了研究。发现C4 Fs0与BF F1相关增加，而C4 f0S和C2 b在IDDM患者中的出现频率均为对照人群的两倍，这对于确定与IDDM易感性相关的单倍型具有重要价值。
