CTLA-4基因微卫星多态性与广西地区汉族Graves病的相关性研究

Studies on the association of CTLA-4 gene microsatellite polymorphism with Graves′ disease of Han nationality in Guangxi province

目的研究CTLA-4基因微卫星多态性与广西地区汉族Graves病(Graves' Disease,GD)的相关性。方法64例广西地区汉族GD患者和50例正常对照组,应用聚合酶链反应技术,检测CTLA-4基因外显子4的3,非翻译区包含(AT)n[CTLA-4(AT)n]重复序列的特异性等位基因。结果广西地区汉族人CTLA-4(AT)n有18种等位基因;汉族GD组与正常对照组比较,106bp等位基因在GD组中显著增高(P<0.05),汉族正常对照组104bp等位基因频率较GD组高(P=0.01),差异有统计学意义。结论CTLA-4基因与广西汉族GD患者明显相关,CTLA-4(AT)n106bp等位基因可能是广西汉族GD的易感基因,104bp等位基因可能是广西汉族GD的保护基因。

[Objective] To investigate the relationship between the polymorphic （AT） n repeats in the 3＇untranslated region of exon 4 of CTLA-4 gene[CTLA-4 （AT） n] and Graves＇ disease （GD） of Han nationality in Guangxi province. [Methods] The study group comprised 64 GD patients and 50 normal controls, matched with patients for sex, and age. Amplification of target DNA was carried out by the polymerase chain reaction （PCR）, with primers 5＇- GCC AGT GAT GCT AAA GGT TC-3＇ and 5＇-AAC ATA CGT GGC TCT ATG CA-3＇. The amplified products were electrophoresed by 8% nondenaturing polyaerylamid gel and followed by 0.1% silver staining. Some of the amplified products were sequenced directly. [Results] 18 alleles of CTLA-4 （AT） n were found in Guangxi Han nationality individuals. 106 bp apparently increased in patients with GD in Han nationality compared with healthy controls. The 104 bp allele in health control was higher than GD patients of Han nationality in Guangxi. [Conclusion] CTLA-4 gene mierosatellite polymorphism was strongly associated with GD patients of Han nationality in Guangxi province. CTLA-4 （AT） n 106 bp may be the susceptible gene in GD patients of Han nationality in Guangxi. CTLA-4 （AT） n 104bp may be the protective factor in GD patients of Han nationality.