Xu S, Atchley W R
Department of Botany and Plant Sciences, University of California, Riverside 92521-0124, USA.
Genetics. 1996 Jul;143(3):1417-24. doi: 10.1093/genetics/143.3.1417.
A composite interval gene mapping procedure for complex binary disease traits is proposed in this paper. The binary trait of interest is assumed to be controlled by an underlying liability that is normally distributed. The liability is treated as a typical quantitative character and thus described by the usual quantitative genetics model. Translation from the liability into a binary (disease) phenotype is through the physiological threshold model. Logistic regression analysis is employed to estimate the effects and locations of putative quantitative trait loci (our terminology for a single quantitative trait locus is QTL while multiple loci are referred to as QTLs). Simulation studies show that properties of this mapping procedure mimic those of the composite interval mapping for normally distributed data. Potential utilization of the QTL mapping procedure for resolving alternative genetic models (e.g., single- or two-trait-locus model) is discussed.
本文提出了一种用于复杂二元疾病性状的复合区间基因定位方法。假设感兴趣的二元性状由服从正态分布的潜在易感性所控制。该易感性被视为典型的数量性状，因此用常规的数量遗传学模型来描述。从易感性到二元（疾病）表型的转换是通过生理阈值模型实现的。采用逻辑回归分析来估计假定的数量性状位点的效应和位置（我们将单个数量性状位点的术语称为QTL，而多个位点则称为QTLs）。模拟研究表明，该定位方法的性质类似于针对正态分布数据的复合区间定位。文中还讨论了利用QTL定位方法解析替代遗传模型（如单性状位点模型或双性状位点模型）的可能性。
