基于熵理论的病例父母亲对照研究来精细定位

摘要

The entropy - based linkage disequilibrium (LD) measure is originally proposed to fine mapping a disease - susceptibility locus (DSL) or a quantitative trait locus (QTL) by comparing the entropy and conditional entropy in a marker at population - level. It might not be robust against population admixture. In contrast, methods based on case - parents study or other family - based studies might have the advantage of avoiding population admixture. In this paper, we extend the entropy -based LD measure to family data with case -parents trios. We treat the parental geno- types not present in tbe affected offspring as the control samples. The application to simulated data shows that the en- tropy - based LD measure adapts to family - based study.%原始的连锁不平衡熵指数通过比较群体样本中标记熵和条件熵来定位疾病位点或数量性状位点．它可能受群体混杂的影响．而利用病例父母亲对照研究或其他的家系研究可以避免群体混杂的影响．本文拓展了连锁不平衡熵指数到病例父母亲数据，将没有传递给受累子代的父母亲的基因型视为对照样本．随机模拟的结果表明连锁不平衡熵指数适用家系研究．