SHB基因与甲状腺功能亢进症Graves病的相关性研究

目的通过对Src同族结构域编剧者蛋白B基因（SHB）的单核苷酸多态（SNP）检测,研究SHB基因与甲状腺功能亢进症（甲亢）Graves病的相关性。方法使用PCR测序方法,对正常人群、甲亢Graves患者SHB基因的启动子、外显子以及临近的内含子进行检测,确定该基因是否与汉族人甲亢Graves病患者相关。结果所测SHB基因片段总长度5679个碱基,发现7个SNP,其中高频、低频SNP分别是6个、1个,其中第6个外显子区有一个SNP在甲亢Graves患者群与正常人群的差异有高度统计学意义（P〈0.01）。结论SHB基因单核苷酸多态可能与甲亢Graves病的发病有关。

Association Study of SHB Gene with Graves Disease

Objective To identify single nucleotide polymorphism （SNP） of SHB gene in Graves disease of Chinese Hans ,and investigate their correlation with the disease. Methods Sequences of proximal promoter and coding regions （including sequence near splicing site） of SHB gene were detected by PCR-sequencing. Results A total of 7 SNPs in SHB gene was identified for SHB gene; there were 6 high frequency SNPs and 1 low frequency SNPs. One SNP located in the exon6 of SHB. There was sig- nificant difference in genotype distribution between Graves disease and the controls （P〈0.05）. Conclu- sion The SHB gene may associate with Graves disease in Chinese Hart population.