人类混血群体连锁不平衡的遗传学模型与基因定位

Gene Mapping and Genetics Model of Linkage Disequilibrium in Half-bred Human Population

人类混血群体可以说是混合群体的一种特例．在无选择、无突变、无限随机交配群体的假定前提下,研究了亲本群体的基因频率对混血群体及其衍生后代群体连锁不平衡结构的影响,导出了各群体连锁不平衡值的表达式,建立了一个估计基因间重组率的简便方法;同时, 采用估算分子标记与QTL之间连锁不平衡系数的统计分析方法,分析了人类混血群体及其衍生后代群体QTL检测与估计的关系,建立了该关系的系列理论公式．研究结果表明,本方法不仅适用于人类疾病(包括复杂遗传疾病)基因定位,而且适合于人类正常基因的定位,同时也适用于人类普通多基因性状的QTL分析．

Half-bred human population is a special example of mixed populations. On the assumption that the population was an unlimited random mating, no selection and mutation one, the effect of gene frequency of parents＇ population on the linkage disequilibrium structure in half-bred and its progeny one was studied. The formula of linkage disequilibrium value was educed. A simple method of estimating gene＇s recombination rate was established. On the other hand, the relationship of QTL detecting and estimating of half-bred human population and their progeny population was analyzed, by using the statistical method which can detect and estimate the coefficient of linkage disequilibrium between a molecular marker locus and quantitative trait locus （QTL）. A series of theoretical formulas were set up. These results indicated that our method was suitable for gene mapping of human diseases （including complex genetic diseases） and normal human. Besides, it was also suitable for the QTL analysis of human regular multi-gene traits.