儿童Graves病与HLA-DQA1基因的相关性分析  

The study of HLA-DQA1 subtype polymorphisms in Graves′ disease in children

作　　者：程昕然[1] 朱静[2] 

机构地区：[1]成都市儿童医院内科,610012 [2]重庆医科大学儿科研究所,400014

出　　处：《国外医学（临床生物化学与检验学分册）》2004年第2期102-104,共3页Foreign Medical Sciences(section of Clinical Biochemistry and Laboratory Medicine

摘　　要：目的　试图建立一种经济简单的HLA DQA1基因分型方法 ,为将来研究HLA DQA1基因相关性疾病及临床诊断弥漫性毒性甲状腺肿 (Graves′disease,GD)提供一种新的途径及方法。方法　用一对聚合酶链反应 (PCR)引物扩增 85例甲亢儿童及 5 0例健康对照外周血细胞基因组DNA的HLA DQA1基因的第二外显子多态性片段后作SSCP分析 ,再经DNA测序证实。结果　发现不同的DQA1基因亚型 ,在中性聚丙烯酰胺凝胶电泳中有不同迁移带 ,两组间有明显差异 ,其中d(DQA1 0 1 0 2 )、f(DQA1 0 30 2 / 0 5 0 1 )两带型频率显著高于对照组 (P <0 .0 5 ) ,而b带型频率显著低于对照组 (P <0 .0 5 )。结论　d、f带型与Graves病的易感性相关 ,b带型与Graves病的保护性相关 ,SSCP方法可以区分HLA DQA1基因多态性 ,不需要放射性同位素 ,是一种简便快速经济的新方法。Objective In order to find a simple,economical HLA DQA1 genotyping method in studying diseases related to HLA DQA1 or clinical diagnosis of GD.Methods Using a pair of primers to amplify the second exon of HLA DQA1 genomic DNA.HLA DQA1 subtypes of the 85 patients with GD and 50 healthy children were analyzed by polymerase chain reaction single strand conformation polymorphism (PCR SSCP),then identified by DNA sequences analysis.Results It showed that different mobilities occurred in different DQA1 subtypes during non denaturing polyacrylamide gel electrophoresis.The frequencies of d and f conformation were increased significantly,and the frequency of b conformation was decreased significantly in GD group.Conclusions It suggests that the HLA DQA1*0102 and HLA DQA1*0302/0501 might be the genetic markers for susceptibility,and HLA DQA1* 0101/0301 might be the genetic markers protective to GD.PCR SSCP can discriminate different DQA1 subtypes polymorphism.The fact suggests that SSCP with silver staining is a rapid,reliable and nonradioactive method.

关 键 词：儿童 GRAVES病 HLA-DQA1基因 相关性 基因多态性 聚合酶链反应 自身免疫性疾病 

分 类 号：R725.8[医药卫生—儿科]