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目的 :分析重庆地区汉族儿童Graves’病 (Graves’disease,GD)与人类白细胞抗原DQA1基因 (HLA -DQA1)多态性的相关性。方法 :用聚合酶链反应 -单链构象多态性 (PCR -SSCP)及DNA测序方法 ,对已经确诊的重庆汉族GD患儿 85例和正常对照组 5 0名儿童的外周血白细胞基因组DNA的HLA -DQA1基因多态性进行分析。结果 :在GD组和对照组中检测到 7种单链构象 ,分别标为abcdefg带型。GD组中d(HLA -DQA1 0 10 2 )、f(HLA -DQA1 0 30 2 / 0 5 0 1)两带型频率 (分别为 4 3.5 % ,VS 8.0 % ;2 7.0 %VS 8.0 % )显著高于正常对照组 (χ2 =18.79,P =0 .0 0 1,RR =8.86 ;χ2 =6 .80 ,P =0 .0 0 9,RR=4 .2 7) ,而b带型 (HLA -DQA1 0 10 1/ 0 30 1)频率 (8.2 %VS 5 2 .0 % )显著低于正常对照组 (χ2 =2 9.4 3,P <0 .0 0 1,RR =0 .0 8)。结论 :HLA -DQA1 0 10 2和HLA -DQA1 0 30 2 / 0 5 0 1可能与GD易感性相关 ,而HLA -DQA1 0 10 1/ 0 30 1可能与GD的保护性相关。提示上述 3基因位点可能分别是重庆地区汉族儿童GD的易感基因和保护基因。
Objective: To analyze the association between Graves’ disease (GD) and HLA-DQA1 polymorphism in Han children in Chongqing. Methods: PCR-SSCP and DNA sequencing were used to detect the genomic DNA of 85 peripheral blood leukocytes from 85 Han children with GD and 50 normal controls HLA-DQA1 gene polymorphisms were analyzed. Results: Seven kinds of single-stranded conformations were detected in GD group and control group, respectively labeled as abcdefg banding. The frequencies of d (HLA-DQA1 0 10 2) and f (HLA-DQA1 0 30 2/0501) bands in GD group were significantly higher than those in control group (3.55% vs 8.0% vs 7.0% vs 8.0%, respectively) (Χ2 = 18.79, P = 0.010, RR = 8.86; χ2 = 6.80, P = 0.090, RR = 4.27) The frequency (8.2% vs 5.2%) was significantly lower than that of the normal control group (χ2 = 2 9.43, P <0.001, RR = 0.08). Conclusion: HLA-DQA1 0 10 2 and HLA-DQA1 0 30 2/0501 may be associated with the susceptibility to GD, while HLA-DQA1 0 1 0 0 0301 may be related to the protective effect of GD. These results suggest that these 3 loci may be susceptible genes and protective genes of GD in Han nationality in Chongqing respectively.