Motro U, Thomson G
Genetics. 1985 Jul;110(3):525-38. doi: 10.1093/genetics/110.3.525.
The distribution of the number of HLA haplotypes shared by sibs affected with the same HLA-linked disease can be used to obtain information on the genetics of the disease. Since the inception of the use of sib-pair methods for the analysis of the HLA-associated diseases, the question has been raised of how to include families with more than two affected sibs in the sib-pair analysis. This paper presents appropriate weighting schemes. A procedure for estimating the frequency of the disease allele in the general population, under the assumptions of single-allele recessive, additive, dominant and intermediate models, with negligible recombination (theta = 0) between the disease-predisposing gene and the HLA region, and no selective disadvantage of the trait, is also given. Cluster-sampling techniques are used in the analysis.
患有相同HLA相关疾病的同胞所共享的HLA单倍型数量分布可用于获取该疾病遗传学方面的信息。自从开始使用同胞对方法分析HLA相关疾病以来,就出现了如何将有两个以上患病同胞的家庭纳入同胞对分析的问题。本文提出了合适的加权方案。还给出了一种在单等位基因隐性、加性、显性和中间模型假设下,估计疾病等位基因在一般人群中的频率的程序,其中疾病易感基因与HLA区域之间的重组可忽略不计(θ = 0),且该性状无选择劣势。分析中使用了整群抽样技术。