Tai J J, Song W H
Institute of Statistical Science, Academia Sinica, Taipei, Taiwan, ROC.
Hum Hered. 1991;41(5):316-23. doi: 10.1159/000154019.
In linkage analysis a single-child family is usually considered to be completely uninformative. This article shows that such a family can provide information on linkage disequilibrium, even if it provides no information on linkage equilibrium. A transition matrix consisting of the recombination fraction and the phase proportion is proposed to study the genetic transmission from a pair of parents to their single child. The information about linkage for a single-child family is shown to be confounded by the phase proportion. This explains why such a family used to be considered uninformative under the assumption of linkage equilibrium. By reparametrizing the recombination fraction and the phase proportion into one parameter, it is demonstrated that extracting information on linkage disequilibrium is feasible. The study of power of the testing method proposed here is carried out by simulation.
在连锁分析中,独生子女家庭通常被认为是完全无信息价值的。本文表明,这样的家庭可以提供关于连锁不平衡的信息,即使它不提供关于连锁平衡的信息。提出了一个由重组率和相位比例组成的转移矩阵,以研究一对父母向其独生子女的基因传递。结果表明,独生子女家庭的连锁信息因相位比例而混淆。这就解释了为什么在连锁平衡假设下,这样的家庭过去被认为是无信息价值的。通过将重组率和相位比例重新参数化为一个参数,证明了提取连锁不平衡信息是可行的。本文提出的检验方法的功效研究是通过模拟进行的。