土耳其乳糜泻患者的HLA-DQ等位基因
HLA-DQ alleles in patients with celiac disease in Turkey.
作者信息
Tüysüz B, Dursun A, Kutlu T, Sökücü S, Cine N, Erkan T, Erginel-Unaltuna N, Tümay G
机构信息
Division of Genetics, Department of Pediatrics, Cerrahpaşa Faculty of Medicine, University of Istanbul, Istanbul, Turkey.
出版信息
Tissue Antigens. 2001 Jun;57(6):540-2. doi: 10.1034/j.1399-0039.2001.057006540.x.
The prevalence of the HLA-DQA1 and DQB1 alleles in 55 Turkish children with celiac disease and 50 control subjects was investigated by using an allele-specific DNA-based polymerase chain reaction-sequence-specific primer (PCR-SSP) method. The frequency of the DQA10501 and DQB102 alleles was higher in celiac patients than in controls. The DQA1B1 (*0501; *02) haplotype was present in 46 (83.6%) patients and only in 12 (24%) controls. The remaining 9 celiac patients which were negative for DQA1B1 (*0501;*02) carried the DQA1B1 (*03;0302) haplotype. We found an excess homozygosity of the DQB102 allele and the DQA1B1 (*0501;02) haplotype in the patients. No statistically significant correlation was found between the homozygosity of this haplotype or the DQB102 allele and an earlier onset of the disease.
采用基于等位基因特异性DNA的聚合酶链反应-序列特异性引物（PCR-SSP）方法，对55例患有乳糜泻的土耳其儿童和50例对照受试者的HLA-DQA1和DQB1等位基因的流行情况进行了调查。乳糜泻患者中DQA10501和DQB102等位基因的频率高于对照组。DQA1B1（*0501；*02）单倍型存在于46例（83.6%）患者中，而仅存在于12例（24%）对照中。其余9例DQA1B1（*0501；*02）阴性的乳糜泻患者携带DQA1B1（*03；0302）单倍型。我们发现患者中DQB102等位基因和DQA1B1（*0501；02）单倍型存在过多的纯合性。该单倍型或DQB102等位基因的纯合性与疾病的较早发病之间未发现统计学上的显著相关性。
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