胰岛素基因区域编码的1型糖尿病易感性并不局限于HLA - DR4阳性个体。
Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals.
作者信息
Bain S C, Prins J B, Hearne C M, Rodrigues N R, Rowe B R, Pritchard L E, Ritchie R J, Hall J R, Undlien D E, Ronningen K S
机构信息
Nuffield Department of Surgery, University of Oxford, John Radcliffe Hospital, Headington, UK.
出版信息
Nat Genet. 1992 Nov;2(3):212-5. doi: 10.1038/ng1192-212.
Type 1 or insulin-dependent diabetes mellitus (IDDM) is an autoimmune disease of the insulin-producing pancreatic beta-cells which is determined by both genetic and environmental factors. The major histocompatibility complex and the insulin gene region (INS) on human chromosomes 6p and 11p, respectively, contain susceptibility genes. Using a mostly French data set, evidence for linkage of INS to IDDM was recently obtained but only in male meioses (suggesting involvement of maternal imprinting) and only in HLA-DR4-positive diabetics. In contrast, we find evidence for linkage in both male and female meioses and that the effect of the susceptibility gene(s) in the INS region is not dependent on the presence of HLA-DR4.
1型或胰岛素依赖型糖尿病（IDDM）是一种由遗传和环境因素共同决定的、影响胰岛素分泌的胰岛β细胞自身免疫性疾病。人类6号染色体短臂和11号染色体短臂上的主要组织相容性复合体和胰岛素基因区域（INS）分别包含易感基因。最近，利用一组主要来自法国的数据，发现了INS与IDDM之间存在连锁关系的证据，但仅在男性减数分裂中发现（提示母系印记的参与），且仅在HLA-DR4阳性的糖尿病患者中发现。相比之下，我们发现无论在男性还是女性减数分裂中均存在连锁关系的证据，且INS区域易感基因的效应并不依赖于HLA-DR4的存在。
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