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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。
Objective To detect single nucleotide polymorphisms (SNPs) in Tim-3 gene and untranslated region of Uygur population in Xinjiang and to search for genetic markers of Tim-3 gene. Methods The length of 3kb 5’-promoter and 3kb of Tim-3 gene in 32 normal Xinjiang Uigur patients were detected by the method of segmented amplification direct sequencing. The SNPs were screened and the results of sequencing were compared with those of other races in NCBI database , To establish the location, type and frequency of Tim-3 gene mutation among Uighurs in Xinjiang. RESULTS: Twelve SNPs were found in the promoter region and untranslated region of Tim-3 gene. Eight high-frequency SNPs were found in the dbSNP database of NCBI and four were newly discovered low-frequency SNPs. The genes of each SNPs The distribution of alleles and alleles were tested by Hardy-Wein-berg equilibrium law and all of them reached the genetic balance with population representativeness. The distribution and frequency of 32 SNPs showed no significant statistical difference. Conclusion The distribution of SNP of Tim-3 gene in Xinjiang Uygur nationality has regional and ethnic differences, which may provide the basis for the study of the relationship between Tim-3 gene and diseases in Victoria and Han nationality.