Robinson D M, Holbeck S, Palmer J, Nepom G T
Virginia Mason Research Center, Seattle, WA 98101.
Genet Epidemiol. 1989;6(1):149-54. doi: 10.1002/gepi.1370060128.
The HLA class II-related susceptibility to type I insulin-dependent diabetes mellitus (IDDM) is examined in 94 multiplex families sorted by the presence or absence of a DR4+ haplotype in at least one diabetic family member. The families with DR4+ haplotypes are then sorted by the presence or absence of a DR4-linked DQ beta 3.2 allele. Further analysis assumes each multiplex family to represent a single diabetic genetic event and identifies the HLA class II haplotype(s) present in all affected members. The DQ beta 3.2 allele is present in over 95% of the multiplex families where DR4+ haplotypes segregate with IDDM, implying a major permissive role in determining susceptibility to IDDM.
在94个多重家庭中研究了与HLA II类相关的I型胰岛素依赖型糖尿病（IDDM）易感性，这些家庭根据至少一名糖尿病家庭成员中是否存在DR4 +单倍型进行分类。然后，将具有DR4 +单倍型的家庭根据是否存在与DR4连锁的DQβ3.2等位基因进行分类。进一步的分析假设每个多重家庭代表一个单一的糖尿病遗传事件，并确定所有受影响成员中存在的HLA II类单倍型。在DR4 +单倍型与IDDM分离的多重家庭中，超过95%存在DQβ3.2等位基因，这意味着其在决定IDDM易感性方面起主要的允许作用。
