HLA系统中胰岛素依赖型糖尿病（IDDM）决定因素的杂合表达。
Heterozygous expression of insulin-dependent diabetes mellitus (IDDM) determinants in the HLA system.
作者信息
Morton N E, Green A, Dunsworth T, Svejgaard A, Barbosa J, Rich S S, Iselius L, Platz P, Ryder L P
出版信息
Am J Hum Genet. 1983 Mar;35(2):201-13.
Abstract
HLA phenotypes of cases with insulin-dependent diabetes mellitus (IDDM) and identity by descent of HLA haplotypes in affected sib-pairs support an intermediate model in which morbid risk is increased by one HLA-linked IDDM determinant, and greatly increased by two determinants, which may be qualitatively different in DR3 and DR4 haplotypes. Linkage analysis allowing for gametic disequilibrium reveals no recombination in pedigrees with a DR3/DR4 propositus, but spurious recombination in the remaining pedigrees. This evidence favors interaction of unlinked IDDM determinants to produce affection in a small proportion of heterozygotes for an HLA-linked determinant. Partition of data by HLA type of the propositus (ideally by DR and the complement types jointly) is a powerful method to resolve etiological heterogeneity for HLA-associated diseases.
摘要
胰岛素依赖型糖尿病（IDDM）患者的HLA表型以及患病同胞对中HLA单倍型的同源性支持一种中间模型，即一种HLA连锁的IDDM决定因素会增加发病风险，而两种决定因素会大大增加发病风险，这两种决定因素在DR3和DR4单倍型中可能在性质上有所不同。考虑配子不平衡的连锁分析显示，以DR3/DR4先证者为家系中无重组，但其余家系中存在假重组。这一证据支持未连锁的IDDM决定因素相互作用，在一小部分HLA连锁决定因素的杂合子中产生病变。根据先证者的HLA类型（理想情况下是联合DR和补体类型）对数据进行划分，是解决HLA相关疾病病因异质性的有力方法。
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