自身免疫多腺体综合征Ⅲ型CTLA-4外显子1多态性研究

首都医科大学学报 ›› 2007, Vol. 28 ›› Issue (1): 97-100.

自身免疫多腺体综合征Ⅲ型CTLA-4外显子1多态性研究

巩纯秀, 申昆玲, 吴迪, 颜纯

首都医科大学附属北京儿童医院内科

收稿日期:2006-06-16 修回日期:1900-01-01 出版日期:2007-02-24 发布日期:2007-02-24

The Polymorphic of Cytotoxic T-Lymphocyte-Associated Antigen 4 of Patients with Autoimmune Poly-glandular Syndrome Ⅲ

Gong Chunxiu, Shen Kunling, Wu Di, Yan Chun

Department of Endocrinology, Beijing Children's Hospital, Capital Medical University

Received:2006-06-16 Revised:1900-01-01 Online:2007-02-24 Published:2007-02-24

摘要/Abstract

摘要： 目的了解毒淋巴T细胞相关抗原-4(CTLA-4)基因外显子1多态性与自身免疫性多腺体综合征Ⅲ型(APSⅢ)的关系。方法采用PCR-RFLP法检测52例正常对照者,39例经典1型糖尿病(T1DMA)患者和16例APSⅢ临床及亚临床患者CTLA-4基因外显子1的多态性。结果正常对照组CTLA-4外显子A等位基因出现频率0.212,低于G等位基因出现频率0.788。正常对照组不同基因型及等位基因均显示女性的GG基因型或G等位基因均较男性高,但差异均无统计学意义(χ²分别为2.856和0.003,P为0.24和0.352)。3组的A、G等位基因频率比较:χ²值和P值分别为1.476和0.478。结论 G是本组人群中的主体基因。A基因频率在正常对照组、T1DMA组和APSⅢ组之间呈依次上升的趋势,推测A基因与疾病易感可能有相关性。同时表明CTLA-4仅仅是自身免疫疾病发生的次要因素。

关键词: 自身免疫性多腺体综合征Ⅲ型, 1型糖尿病, 自身免疫疾病

Abstract: Objective To learn the relationship between CTLA-4 exon 1 49A/G and APS Ⅲ. Methods 52 normal control, 39 T1DMA cases and 16 APS Ⅲ cases. Results The frequency of allele G, 0.788 was higher than A, 0.212. GG genotype and G allele was higher in NC group. But it was no significant difference(χ²=2.856, P=0.24; χ²=0.003, P=0.352). G and A alleles in 3 groups was no significant difference too. Conclusion The main allele is G in the research groups. The CTLA-4 polymorphism has race difference. There is a increased trend of A allele in NC, T1DM and APS Ⅲ. So there may be a relation between A allele and susceptibility of autoimmune disease.

Key words: APS Ⅲ, T1DM, autoimmune disease

中图分类号:

R593

巩纯秀;申昆玲;吴迪;颜纯. 自身免疫多腺体综合征Ⅲ型CTLA-4外显子1多态性研究[J]. 首都医科大学学报, 2007, 28(1): 97-100.

Gong Chunxiu;Shen Kunling;Wu Di;Yan Chun. The Polymorphic of Cytotoxic T-Lymphocyte-Associated Antigen 4 of Patients with Autoimmune Poly-glandular Syndrome Ⅲ[J]. Journal of Capital Medical University, 2007, 28(1): 97-100.

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