新疆维、汉人群CD14基因单核苷酸多态性的连锁不平衡和单倍型分析

Linkage disequilibrium and haplotype of single nucleotide polymorphism in CD14 Gene in Xinjiang Uygurs and Hans

目的研究CD14基因-159-、1359r、s2569192 3个单核苷酸多态性(SNP)的发生频率在新疆维吾尔族(维族)、汉族人群是否存在连锁不平衡关系及其单倍型组成。方法应用SNaPshot SNP分型技术对新疆地区维族、汉族300例(维、汉族各150例)健康个体CD14基因-159C/T-、1359T/Gr、s2569192G/C 3个SNP位点进行基因分型,分析3个位点间的连锁不平衡关系,计算它们构成的单倍型。结果 CD14基因-159C/T-、1359T/G、rs2569192G/C 3个SNP位点基因型频率分布符合H-W平衡。新疆维族和汉族的等位基因发生频率差异无统计学意义(P>0.05)。通过对这3个SNP位点两两间进行连锁不平衡分析,发现连锁不平衡系数|D’|值都为1。3个SNP主要组成4种单倍型:TGC、CTC、CGG、CGC,维、汉族单倍型频率比较差异无统计学意义(P>0.05)。结论新疆地区维、汉人群CD14基因-159C/T-、1359T/Gr、s2569192G/C 3个SNP位点呈完全连锁不平衡。TGC是维、汉族人群的主要单倍型。为新疆地区维、汉族人群CD14基因3个SNP的群体遗传学资料,并且为寻找与CD14相关疾病单倍型奠定了基础。

Objective To investigate the frequencies of-159,-1359 and rs2569192 single nucleotide polymorphisms（SNP） of CD14 gene in Xinjiang Uygurs and Hans whether they are in linkage disequilibrium.Methods Genotypes of CD14 gene were examined by SNaPshot technic in 300 healthy individuals.Linkage disequilibrium analyses and haplotype frequencies were evaluated with Haploview 4.2 software.Results The allele frequencies of the-159C/T,-1359T/G and rs2569192G/C 3 SNPs were in agreement with Hardy-Weinberg equilibrium.The distribution of alleles had no differences between the Xinjiang Uygurs and Hans（P0.05）.LD analyses revealed that all of the coefficient of LD（｜D＇｜） were 1.The dominant haplotypes comprising the three loci were TGC,C-TC,CGG,CGC.Haplotype frequencies of Han and Uygur were no significant difference（P0.05）.Conclusion The-159,-1359,rs2569192 loci of CD14 gene are in complete linkage disequilibrium.The dominant haplotypes is T-G-C in both Uygurs and Hans.Our study provides population genetic data on CD14 gene in Xinjiang Uygurs and Hans and a basis for searching immune mediated disease-realted CD14 haplotype.