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北爱尔兰多发性硬化症患者的HLA-DR和DQ基因分型

HLA-DR and DQ DNA genotyping in multiple sclerosis patients in Northern Ireland.

作者信息

Cullen C G, Middleton D, Savage D A, Hawkins S

机构信息

Northern Ireland Tissue Typing Service, Belfast City Hospital.

出版信息

Hum Immunol. 1991 Jan;30(1):1-6. doi: 10.1016/0198-8859(91)90062-e.

Abstract

DNA from multiple sclerosis (MS) patients and healthy control individuals from the Northern Ireland population, was assessed by restriction fragment length polymorphism (RFLP) analysis to look for disease-associated polymorphisms. HLA-DR and -DQ allogenotyping was performed using a single enzyme (TaqI)/Multiple probe system. The TaqI/DR beta RFLPs correlate well with serologically defined specificities and in addition detect further subtypes of these associated with DQ or Dw specificities. The results confirm an association of MS with DR beta 15 and show a decreased frequency of DR beta 4 in the patients. An increased frequency of DR beta 17 in patients negative for DR beta 15 was also found. There is a decrease in the frequency of the TaqI/DQ beta 3 (TA10 + ve) RFLP and the TaqI/DQ alpha 2LL genotype in the MS patients, these not being associated with DR beta 15. In addition RFLP analysis of the DPA1 and DPB1 genes reveals an MspI/DP beta 3.0-kb fragment which occurs at a higher frequency in the patients than in the controls.

摘要

通过限制性片段长度多态性(RFLP)分析对来自北爱尔兰人群的多发性硬化症(MS)患者和健康对照个体的DNA进行评估,以寻找与疾病相关的多态性。使用单一酶(TaqI)/多重探针系统进行HLA-DR和-DQ同种异体基因分型。TaqI/DRβRFLP与血清学定义的特异性相关性良好,此外还可检测与DQ或Dw特异性相关的这些特异性的其他亚型。结果证实MS与DRβ15相关,并显示患者中DRβ4的频率降低。在DRβ15阴性的患者中还发现DRβ17的频率增加。MS患者中TaqI/DQβ3(TA10 + ve)RFLP和TaqI/DQα2LL基因型的频率降低,这些与DRβ15无关。此外,对DPA1和DPB1基因的RFLP分析显示,MspI/DPβ3.0-kb片段在患者中的出现频率高于对照组。

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