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遗传异质性问题是遗传学研究的重要课题之一。深入研究该问题将有助于基因定位、基因诊断、遗传咨询和遗传病的临床治疗及预后估计。目前研究遗传异质性的方法有:家系研究、方差分析、双正态分布分析、亲属相关性分析、近亲婚配分析等。其中采用分子遗传学及遗传流行病学方法进行研究的主要是连锁分析、区域定位法和同时搜寻法、聚合酶链反应(PCR)。本文就后三种新近发展起来的方法进行简要综述,着重讨论有关的数学问题。
Genetic heterogeneity is one of the important topics in genetics research. In-depth study of the issue will help gene therapy, gene diagnosis, genetic counseling and genetic disease clinical treatment and prognosis. The current study of genetic heterogeneity methods are: pedigree study, analysis of variance, bivariate normal distribution analysis, kin correlation analysis, analysis of cousins marriage and so on. Among them, molecular genetics and genetic epidemiological methods are mainly used for linkage analysis, regional mapping and simultaneous search, and polymerase chain reaction (PCR). This article briefly reviews the last three newly developed approaches, focusing on the related mathematical issues.