四川汉族人群着色性干皮病C基因多态性

Gene polymorphisms of xeroderma pigmentosum group C in Sichuan Han population

目的:了解四川汉族人群XPC-A2920C和XPC-PAT基因多态性,并与其他地区和国家进行比较。方法:实验于2006-05/10在泸州医学院分子生物学实验室完成。采用聚合酶链反应-限制性片断长度多态性方法检测四川泸州地区208例健康无血缘关系个体XPC-A2920C和XPC-PAT位点基因型和单倍型频率分布。应用χ2检验分析两位点基因型在四川汉族人群中的分布与其他人群的分布是否有差异,以P<0.05为有统计学意义,SHEsis软件进行连锁不平衡和单倍型分析,以D'>0.5具有连锁不平衡。结果:①A2920C位点检出3种基因型,AA,AC和CC的频率分别为45.7%,43.7%,10.6%。XPC-PAT位点3种基因型PAT-/-,PAT+/-,PAT+/+的频率分别为45.2%,43.7%,11.1%。基因型频率分布符合Hardy-Weinberg平衡定律(P>0.05),具有群体代表性。②单倍型APAT-,APAT+,CPAT-,CPAT+频率分别为65.6%,1.9%,1.4%,31.1%。两位点存在连锁不平衡(D'=0.958)。③A2920C基因型频率分布与日本、韩国人群比较有统计学意义(AA:45.7%,12.2%,34.8%;AC:43.7%,45.0%,51.5%;CC:10.6%,42.8%,13.7%;P均<0.01)。XPC-PAT基因型频率分布与美国、西班牙人群比较有统计学意义(PAT-/-:45.2%,34.4%,30.6%;PAT+/-:43.7%,49.4%,48.7%;PAT+/+:11.1%,16.2%,20.6%;P<0.05)。结论:A2920C和PAT多态性均检出3种基因型,其多态性分布存在种族和地区差异。

AIM： To discuss the gene polymorphisms of DNA repair gene xeroderma pigmentosum group C （XPC） A2920C and PAT loci in Sichuan Han population, and compare them with other regions and countries. METHODS： The experiment was conducted in the molecular biological laboratory of Luzhou Medical College from May to October 2006. The genotypes and haplotypes frequencies of 208 healthy individuals from Sichuan Luzhou, who had no blood relationship, were studied by polymerase chain reaction-restriction fragment lengthy polymorphism （PCR-RFLP）. The difference in the genotypes and haplotypes frequencies distribution between Sichuan and other populations was calculated by Х^2 test, and P 〈 0.05 was considered statistical significant; the linkage disequilibrium of the two loci, and haplotypes were estimated by SHEsis software; D＇ 〉 0.5 was considered statistical significant. RESULTS： （1）The genotype frequencies of AA, AC and CC at A2920C locus were 45.7%, 43.7%, and 10.6%, respectively, and PAT -/-,PAT ＋/-,PAT ＋/＋ at XPC-PAT locus were 45.2%, 43.7%, and 11.1%, respectively. The distribution of genotype frequencies was in accordance to Hardy-Weinberg equilibrium law.（2）The frequencies of haplotypes A PAT-, A PAT＋, C PAT-, and C PAT＋ were 65.6%, 1.9%, 1.4%, and 31.1%, respectively. There was linkage disequilibrium between two loci （D＇=0.958）. （3）The distribution of genotype frequencies of A2920C locus in Sichuan Han population was significantly different from those of Japan and South Korea （AA： 45.7%, 12.2%, 34.8%; AC： 43.7%, 45.0%, 51.5%; CC： 10.6%, 42.8%, 13.7%; P〈 0.01）; the distribution of genotype frequencies of XPC-PAT locus were obviously different from that in American and Spain （PAT -/-： 45.2%, 34.4%, 30.6%; PAT ＋/-： 43.7%, 49.4%, 48.7%; PAT ＋/＋： 11.1%, 16.2%, 20.6%; P〈 0.05）. CONCLUSION： There are three genotypes respectively in A2920C and PAT polymorphism, and the distribution of their genotype frequencies is different in various races and regions.