中国北方汉族人VISA基因相关位点单核苷酸多态性分析

Polymorphisms of the VISA gene in the Han population in the northern part of China

目的分析中国北方汉族正常人群VISA基因相关位点单核苷酸多态性(SNP)的分布特征。方法用DNA序列测定技术分析100例正常人VISA基因上下游侧翼序列、外显子及外显子/内含子连接区的核苷酸序列。用核酸序列分析软件与Genbank的VISA基因序列比对,分析SNP的基因型、等位基因分布特点,并与高加索人种比较。结果发现8个SNP,其中5个为已知的SNP,新发现3个;NCBI数据库中有报道而本研究人群中未出现的SNP位点有6个。中国北方汉族正常人群与高加索人VISA基因多个相关位点基因型及等位基因分布有差异(P<0.05)。结论本研究结果对了解中国北方正常人群VISA基因多态性分布特征有一定的参考价值。

Objective To investigate the distribution of single nucleotide polymorphisms（SNPs）in the VISA gene in the Han population in the northern part of China. Methods The nucleotide sequences in flanking sequence, and the exon and exon-intron junction regions of the VISA gene in 100 individuals were determined by DNA sequencing technology, and were compared with the Gerbank sequences determined by nucleotide sequence analysis software. Genotypes and allele characters of SNPs were studied and compared with those of Caucasians. Results 8 SNPs were found, in which 5 were already known and 3 were new, but 6 reported sites in the NGBI database were not found in our study. There were different distribution sites（ P 〈 0.05） of genotype and allele frequencies between the Han population in the northern part of China and Caucasians. Conclusion This study is valuable for further study of polymorphism distribution of the VISA gene in the Hart population of the northern part of China.