Morton N E, Lalouel J M
Hum Hered. 1981;31(1):3-7. doi: 10.1159/000153168.
A method is given to resolve pleiotropy from linkage; to detect and estimate recombination free of incomplete penetrance, etiological heterogeneity, and other phenomena; and to estimate gametic frequencies for the main and test loci jointly. Large pedigrees, a liability indicator specifying risk groups (based on age, sex, or other factors), gametic disequilibrium, different recombination values in the two sexes, multiple alleles at the test locus, and a mixture of linked and unlinked marker loci are provided for. Parametrization of the marker locus is the same as for segregation analysis with pointers. The output includes standard errors, likelihood ratio tests of hypotheses, and a standard lod table for each sex separately. A model of closely linked complementing factors which can simulate recombination is also considered.
给出了一种从连锁中解析多效性的方法;用于检测和估计不存在不完全显性、病因异质性及其他现象时的重组;并联合估计主位点和测试位点的配子频率。该方法适用于大型家系、指定风险组的易患性指标(基于年龄、性别或其他因素)、配子不平衡、两性中不同的重组值、测试位点的多个等位基因以及连锁和非连锁标记位点的混合情况。标记位点的参数化与使用指示基因进行分离分析时相同。输出结果包括标准误差、假设的似然比检验以及按性别分别列出的标准连锁值表。还考虑了一种可模拟重组的紧密连锁互补因子模型。