关键词: 基因，Tim-3；多态性，单核苷酸；人种群

Abstract:

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.

Key words: Gene， Tim-3；  Polymorphism，  single nucleotide； Ethnic groups