SIT1基因的单核苷酸多态的研究

目的:通过对信号开始调节穿膜编剧者1基因(SIT1)的单核苷酸多态(SNP)检测,研究SIT1基因与甲状腺功能亢进症Graves病的相关性。方法:使用PCR-测序方法,对SIT1基因的启动子、外显子以及临近的内含子分别在正常人群、甲状腺功能亢进症人群进行测序。结果:SIT1基因有2个高频SNP,对这两个SNP进行基因分型时发现疾病人群和正常人群在不同基因型间差异无统计学意义。但这两个SNP与国际公共数据库公布的SNP完全不同。结论:SIT1基因与甲亢Graves病不相关。SIT1基因的SNP在中国汉族人与外国人存在差别。

The SNP study of SIT1 gene

Objective:To identify single nucleotide polymorphism(SNP)of SIT1 gene in Graves disease of Chinese Hans,and investigate their correlation with the disease.Methods:Sequences of proximal promoter,coding regions(including sequence near splicing site)of SIT1 gene were detected by PCR-sequencing.Results:2 high frequency SNPs were identified for SIT1 gene;There was no statistic difference in normal control and disease group by genotyping.But the 2 SNPs were complete different from the SNPs published in the international database.Conclusion:There was no correlativity between the SNPs of SIT1 gene and Graves disease.The SNPs of SIT1 gene were different between Chinese Hans and foreigners.