Heterozygous expression of insulin-dependent diabetes mellitus (IDDM) determinants in the HLA system.
Heterozygous expression of insulin-dependent diabetes mellitus (IDDM) determinants in the HLA system.
复制标题
HLA 系统中胰岛素依赖性糖尿病 (IDDM) 决定簇的杂合表达。
DOI：
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发表时间：
1983
影响因子：
9.8
通讯作者：
L. Ryder
中科院分区：
文献类型：
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作者：
N. Morton;A. Green;T. Dunsworth;A. Svejgaard;J. Barbosa;S. Rich;L. Iselius;P. Platz;L. Ryder
胰岛素依赖型糖尿病（IDDM）病例的HLA表型和受影响同胞对中HLA单倍型的血统一致性支持一种中间模型，其中一种HLA连锁的IDDM决定因素增加了发病风险，两种决定因素大大增加了发病风险，这两种决定因素在DR 3和DR 4单倍型中可能是定性不同的。允许配子不平衡的连锁分析显示，没有重组的家系与DR 3/DR 4先证者，但假重组在其余的家系。这一证据有利于非连锁的胰岛素依赖型糖尿病决定因素的相互作用，在一小部分HLA连锁决定因素的杂合子中产生影响。通过先证者的HLA类型（理想地通过DR和补体类型联合）划分数据是解决HLA相关疾病的病因异质性的有力方法。
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.