Payami H, Thomson G, Motro U, Louis E J, Hudes E
Ann Hum Genet. 1985 Oct;49(4):303-14. doi: 10.1111/j.1469-1809.1985.tb01706.x.
The classical sib pair method uses the expected and observed HLA (human leukocyte antigen) haplotype sharing distribution in sib pairs, who are affected with an HLA associated disease, to make inferences about the inheritance of the disease. In this paper we present the expected HLA haplotype sharing distributions in affected sib trios, and sib pairs, from families with three or more affected sibs. The underlying model for both distributions, as for the classical sib pair method, is that disease predisposition is determined by a single allele at an HLA-linked locus. The sib trio tests of hypotheses (additive and recessive), and disease parameter estimates (additive, recessive and intermediate), can be compared with those obtained from the classical sib pair analysis. In addition, the sib trio data allow parameter estimation for a general disease model to be made, if the data fall within the bounds of the expectation. This study forms the basis of later investigations which show that haplotype sharing of affected sib trios for two susceptibility alleles (negative complementation) model, which appears appropriate for insulin dependent diabetes mellitus (IDDM), moves outside the bound of the single susceptibility expectations outlined here, whereas haplotype sharing values for sib pairs are bound by the single susceptibility allele expectations. Available Caucasian IDDM data have been analysed. The results support genetic heterogeneity of IDDM.
经典的同胞对方法利用患HLA相关疾病的同胞对中预期和观察到的HLA（人类白细胞抗原）单倍型共享分布，来推断疾病的遗传方式。在本文中，我们给出了来自有三个或更多患病同胞的家庭中，患病同胞三联体和同胞对的预期HLA单倍型共享分布。与经典同胞对方法一样，这两种分布的基础模型是，疾病易感性由HLA连锁位点上的单个等位基因决定。同胞三联体的假设检验（加性和隐性）以及疾病参数估计（加性、隐性和中间型），可以与经典同胞对分析得到的结果进行比较。此外，如果数据在预期范围内，同胞三联体数据允许对一般疾病模型进行参数估计。本研究为后续调查奠定了基础，后续调查表明，对于两个易感等位基因（负互补）模型，患病同胞三联体的单倍型共享情况（这似乎适用于胰岛素依赖型糖尿病（IDDM））超出了此处概述的单易感等位基因预期范围，而同胞对的单倍型共享值则受单易感等位基因预期的限制。我们已经分析了现有的白种人IDDM数据。结果支持IDDM的遗传异质性。
