ABCA1基因R219K多态性在汉族与壮族人群中的分布

Distribution of ABCA1 gene R219K polymorphism in Han and Zhuang populations

目的:探讨ABCA1基因R219K多态性在汉族和壮族人群中的分布.方法:采用聚合酶链-限制性片段长度多态性(PCR-RFLP)技术,对无血缘关系的健康汉族人127例和壮族人103例的ABCA1基因R219K位点G→A(Arg219Lys)进行检测,分析基因型频率和等位基因频率在两组人群中的分布,并与西方其他种族相比较.结果:ABCA1基因R219K等位基因频率在汉族分别为0.650和0.350,壮族中分别为0.631和0.369,基因型频率在汉族分别为RR=0.425,RK=0.449,KK=0.126;壮族分别为RR=0.427,RK=0.408,KK=0.165;两组人群的基因多态性分布差异无统计学意义(P>0.05);与德国人群相比差异有统计学意义(P<0.01).结论:ABCA1基因R219K位点多态性在中国汉族与壮族的分布无差异,而有别于德国人种,提示该基因多态性可以应用于群体遗传学和脂代谢疾病易感性的研究.

AIM： To investigate the distribution of ABCA1 gene R219K polymorphism in the Han and Zhuang populations. METHODS ： The polymerase chain reaction - restriction fragment length polymorphism （PCR-RFLP） technique was used to examine ABCA1 gene R219K polymorphism G→A （Arg219Lys） in 127 unrelated healthy Han persons and 103 unrelated healthy Zhuang individuals. X2 test was used to compare the genotype and allele frequencies of Chinese population with those of western ethnic populations. RESULTS ： The allele frequencies of ABCA1 gene R219K in Han population were as follows： R =0. 650, K = 0. 350 ; the genotype frequencies were RR = 0. 425, RK = 0. 449, KK = 0. 126. The allele frequencies of Zhuang minority were as follows： R = 0. 631, K = 0. 369, and the genotype frequencies were RR = 0. 427, RK = 0. 408, KK = 0. 165. No significant difference was found in the frequencies of ABCA1 gene R219K genotypes and alleles between Han and Zhuang populations in China （P 〉 0. 05）, while there were very significant differences between Chinese population and Germany population （ P 〈 0.01 ）. CONCLUSION： The frequencies of ABCA1 gene R219K genotypes and alleles in Han population are not different from Zhuang minority in Guangxi Zhuang Autonomous Region of China, but are very different from Hesperian population. The data imply the association of the single nucleotide polymorphism with the lipid metabolism and the susceptibility to coronary atherosclerotic heart disease and can be well useful for the study of population genetics.