文章摘要
许馨予,于晓竹,顾 愹,王知笑,陈 恒,徐宽枫,张 梅,杨 涛,周红文.1型糖尿病与HLA-DRB1?DQB1基因相关性研究[J].南京医科大学学报,2010,(11):1575~1579
1型糖尿病与HLA-DRB1?DQB1基因相关性研究
Relationship between HLA-DRB1, DQB1 alleles and type 1 diabetes mellitus
投稿时间:2010-07-07  
DOI:10.7655
中文关键词: 1型糖尿病  HLA  等位基因  单倍型
英文关键词: type 1 diabetes mellitus  HLA  allele  haplotype
基金项目:国家自然科学基金资助项目(30671010;30971405)
作者单位
许馨予 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
于晓竹 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
顾 愹 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
王知笑 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
陈 恒 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
徐宽枫 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
张 梅 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
杨 涛 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
周红文 南京医科大学第一附属医院内分泌科,江苏 南京 210029 
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中文摘要:
      目的: 研究中国江苏地区汉族人群1型糖尿病(T1DM)与人类白细胞抗原(HLA)-DRB1?DQB1基因及单倍型频率的相关性?方法:选取江苏地区汉族人群T1DM患者(112例)与对照组(69例),运用聚合酶链反应-寡核苷酸探针序列特异性引物(PCR-SSO)技术,进行HLA-DRB1?DQB1基因分型,两组间等位基因频率比较采用χ2检验,通过Arlequin软件进行单倍型频率的分析?结果:112名T1DM患者中检测到DRB1位点等位基因17个(对照组19个),DQB1位点等位基因7个(对照组7个)?与对照组相比,T1DM组DRB1*0901?DRB1*0405和DRB1*0301频率明显增高,DQB1位点的DQB1*0201与DQB1*0303频率明显高于对照组;与对照组相比,T1DM患者明显升高的单倍型频率为:DRB1*0901-DQB1*0303?DRB1*0301-DQB1*0201?DRB1*0405-DQB1*0401和DRB1*0405-DQB1*0302?结论:中国江苏地区汉族T1DM患者HLA基因DR位点的DRB1*0901?DRB1*0405?DRB1*0301及DQ位点的DQB1*0201?DQB1*0303对T1DM易感?发现了4个新的具有易感作用的单倍型:DRB1*0901-DQB1*0303?DRB1*0301-DQB1*0201?DRB1*0405-DQB1*0401和DRB1*0405 -DQB1*0302?
英文摘要:
      Objective: To explore the relationship between human leucocyte antigen(HLA)-DRB1,DQB1 alleles and type 1 diabetes mellitus(T1DM) in Jiangsu area. Methods: We recruited 112 T1DM patients and 69 controls. The alleles were analyzed with polymerase chain reaction-sequence special oligonucleotide primers(PCR-SSO). The frequency of allele and haplotype were calculated by the chi-square test or Arlequin software. Results:17 DRB1 alleles and 7 DQB1 alleles were detected in 112 T1DM patients,the frenquencies of DRB1*0901, DRB1*0405, DRB1*0301, DQB1*0201 and DQB1*0303 alleles in the patients were significantly higher than that in healthy control group; the frequencies of DRB1*0901-DQB1*0303,DRB1*0301-DQB1*0201, DRB1*0405-DQB1*0401 and DRB1*0405-DQB1*0302 haplotypes were higher in T1DM than that in the controls. Conclusion: T1DM is associated with DRB1*0901, DRB1*0405, DRB1*0301, DQB1*0201 and DQB1*0303. And we find four susceptible DR-DQ haplotypes, DRB1*0901-DQB1*0303, DRB1*0301-DQB1*0201, DRB1*0405-DQB1*0401 and DRB1*0405-DQB1*0302 in Jiangsu area.
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