中文摘要：

目的检测新疆维吾尔族人中Tim-3基因启动子区和非翻译区单核苷酸多态性（SNP）,寻找Tim-3基因的遗传标记。方法采用分段扩增直接测序法,检测32名正常新疆维吾尔族人Tim-3基因5′启动子3kb和3′端1kb的长度—筛查SNPs,将测序结果与NCBI数据库中其他人种进行比较,确立新疆维吾尔族人中Tim-3基因突变的位置、类型及频率。结果在Tim-3基因启动子区和非翻译区发现12个SNP位点,有8个高频SNP位点在NCBI的dbSNP数据库中已存在,4个是新发现的低频SNP;各个SNPs的基因型和等位基因分布经Hardy-Wein-berg平衡定律检验,均达到遗传平衡,具有群体代表性。32例SNPs的分布及频率未见明显的统计学差异。结论新疆维吾尔族人中Tim-3基因SNP分布具有种族和地域差异,可为研究维、汉族人Tim-3基因与疾病相关性提供依据。

英文摘要：

Objective：To detect single nucleotide polymorphisms（SNPs） in the promoter and non-translational region of the human T-cell immunoglobulin and mucin domain-3（Tim-3） gene in the Uigur of the Xinjiang Uygur Autonomous Region,and to search for genetic marks of the Tim-3 gene.Methods：Employing direct sequencing PCR amplification,the lengths of 5′promoter region 3kb and 3′ext 1kb of the Tim-3 gene were detected to screen for SNPs in 32 common Uigurs of Xinjiang Province,and the results were compared with other ethnic groups in the database of the National Center for Biotechnology Information（NCBI）.The position,type and frequency of the Tim-3 gene in Uigurs of Xinjiang Province were determined.Results：12 SNPs were detected in the promoter and non-translational region of the Tim-3 gene,including 8 existing high-frequency SNPs and 4 newly-discovered low-frequency SNPs.The genotype and allele distribution of each SNP proved to attain heredity balance according to the Hardy-Weinberg equilibrium law,possessing a groupspecialty.The distribution and frequency of the 32 SNPs showed no statistical difference.Conclusion：The SNP distribution of the Tim-3 gene in Uigurs of Xinjiang Province has racial and regional differences,which may lay the foundation for the study about the relativity between the Tim-3 gene and diseases in the Uigur and Han.