中国蒙古族群体和北方汉族群体C1R遗传多态性研究

STUDIES ON GENETIC POLYMORPHISM OF C1R IN TWO CHINESE POPULATIONS

为了解中国人群Ｃ１Ｒ的遗传多态性，并评估和展望其在法医学和群体遗传学中的应用价值，运用作者建立的测定Ｃ１Ｒ表型的等电聚焦免疫印迹技术，调查了中国蒙古族群体和北方汉族群体补体Ｃ１ｒ亚单位（Ｃ１Ｒ）的遗传多态性，这两个群体中Ｃ１Ｒ等位基因的频率分布为：蒙古族：Ｃ１Ｒ＊１＝０．５３１７、Ｃ１Ｒ＊２＝０．２８１７、Ｃ１Ｒ＊５＝０．１７２５、Ｃ１Ｒ＊Ｖ＝０．０１４１；北方汉族：Ｃ１Ｒ＊１＝０．５３８１、Ｃ１Ｒ＊２＝０．２６１９、Ｃ１Ｒ＊５＝０．１７１４、Ｃ１Ｒ＊６＝０．００４８、Ｃ１Ｒ＊７＝０．００４８、Ｃ１Ｒ＊Ｖ＝０．０１９０。与其他群体Ｃ１Ｒ的资料相比，中国这两个群体Ｃ１Ｒ的基因频率分布与白种人、黑人有很大差异，提示Ｃ１Ｒ是群体遗传学研究较理想的遗传标记之一。

An isoelectric focusing technique followed by immunoblotting for studing polymorphisms of C1R subcomponent of the first complement component bas been established. With this technique,we studied the genetic polymorphisms of C1R in two Chinese populations.The CIR allele frequencies in Mongolian population and Han population were:C1R * 1=0.5317,C1R * 2 =0.2817,C1R *5=0.1725,C1R*V=0.0141,and C1R*1=0.5381,C1R * 2=0.2619,C1R*5=0.1714,C1R*V=0.0190,C1R* 6=0.0048,C1R *7=0.0048 respectively.It was found that the differences of the allele frequencies of C1R between different ethnic groups were significant,which suggests that the C1R should be one of useful markers for population genetics study.