Ewens W J, Clarke C P
Am J Hum Genet. 1984 Jul;36(4):858-72.
This paper is concerned with estimating parameters associated with HLA-linked diseases. We consider a single disease locus closely linked to HLA, allowing a disease and a normal allele. The parameters to be estimated are the penetrances of the genotypes at the disease locus, the population frequency of the disease allele, and the distance of the disease locus from HLA. The presently used method of estimation uses HLA-sharing information from affected sib-pairs. The method proposed here generalizes the previous approach, using data from all sibs (affected or unaffected) in a family of any size. It allows immediate generalizations to the use of information on parental affectedness status and population prevalence.
本文关注与HLA连锁疾病相关的参数估计。我们考虑一个与HLA紧密连锁的单一疾病位点,存在一个疾病等位基因和一个正常等位基因。待估计的参数包括疾病位点基因型的外显率、疾病等位基因的群体频率以及疾病位点与HLA的距离。目前使用的估计方法利用患病同胞对的HLA共享信息。这里提出的方法推广了先前的方法,使用任何规模家庭中所有同胞(患病或未患病)的数据。它允许直接推广到使用父母患病状态信息和群体患病率。