中文摘要：

目的通过检测新疆维吾尔族人群CD14基因全长的序列信息,分析CD14基因的单核昔酸多态性（single nucleotide polymorphisnrs,SNPs）和维吾尔族遗传结构。方法采用直接测序的方法检测32例健康维吾尔族人CD14基因全长,将测序结果与美国国家生物技术信息中心（NCBI）及国际人类基因组单体型图计划（HapMap）中中国汉族人、日本人、欧洲人及非洲人的SNP进行对比,确定维吾尔族人群CD14基因SNPs的位置、类型和频率。结果总共有效测序长度约为4000bp,发现了11个SNP位点,这11个位点彼此都处于高度的连锁不平衡。通过11个位点计算出4个主要单倍型,频率最高的是ACAGGGCTGGG,为56.2%。计算出3个频率大于10%的标签SNP（tagSNP）。这11个SNP位点里有9个位点在NCBI的dbSNP数据库中已存在,2个是新发现的低频SNP,其中rs2569192和rs4914在维吾尔族人的分布与中国汉族人、日本人、欧洲人、非洲人明显不同,差异有显著性（P〈0.01）。rs2569190和rs2569191在维吾尔族人分布与其他种族人的差异有显著性（P〈0.05）。结论中国维吾尔族人群CD14基因的SNPs分布和遗传结构有别于其他人种,在后续研究中应参考维吾尔族人自己的测序数据。该研究为CD14基因与疾病关联研究候选SNPs的选择提供了科学依据。

英文摘要：

[Objective] To analyze the single nucleotide polymorphisms（SNPs） of CD14 gene and the genetic structure in Uyghur populations through the CD14 gene sequencing.[Methods] Healthy Uyghurs 32 were selected to detect the CD14 gene total length.To decide position,types,frequency of SNPs of CD14 gene in Uyghurs through compared the SNPs information with Chinese Han,Japanese,European and African＇s in National Center for Biotechnology Information（NCBI） and HapMap databases.[Results] 4000 bp of CD14 gene were examined and 11 SNPs mutations were found.Significant linkage disequilibrium was composed among these 11 loci of CD14 gene.4 main haplotypes were calculated,the highest frequency was ACAGGGCTGGG（56.2%）.To calculate 3 tag SNPs which frequency is more than 10%.Among nine high frequencies SNP were existed in database SNP with NCBI while two low frequencies were first time to report.The distribution of rs2569192,rs4914 in Uyghur population were quite differented from Chinese Han populations,Japanese,European and African＇s（P 0.01）.rs2569190,rs2569191 in Uyghur populations differented from others（0.01 P 0.05）.[Conclusion] The SNPs and genetic structure of CD14 in Uyghur population are different from the other population.We should refer to the Uyghur＇s data in extending study.Our study provides scientific data for CD14 gene polymorphisms with related disease.