Morris A P, Whittaker J C
University of Reading, Department of Applied Statistics, PO Box 240, Earley Gate, Reading RG6 6FN, UK.
Ann Hum Genet. 2000 May;64(Pt 3):223-37. doi: 10.1017/S0003480000008058.
We present a new method for the fine scale mapping of disease loci based on samples of simplex families, each containing an affected child. The method is based on a generalisation of a single locus allele transmission model to multiple marker loci. The model is developed under the assumption of a single ancestral mutation and allows for the calculation of posterior probabilities that each allele at a particular marker was present on the founder chromosome. We illustrate the method using simulated family data for cystic fibrosis and Huntingtons disease, for which the locations of mutations in the disease genes are now known. For both diseases, our new method provides good estimates of the location of the mutations.
我们提出了一种基于单纯形家系样本对疾病基因座进行精细定位的新方法，每个家系都包含一个患病儿童。该方法基于将单基因座等位基因传递模型推广到多个标记基因座。该模型是在单一祖先突变的假设下开发的，并允许计算特定标记处每个等位基因存在于奠基者染色体上的后验概率。我们使用囊性纤维化和亨廷顿舞蹈症的模拟家系数据来说明该方法，这两种疾病的致病基因突变位置现已明确。对于这两种疾病，我们的新方法都能很好地估计突变的位置。
