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苏丹1型(胰岛素依赖型)糖尿病患者的HLA - DR和 - DQ基因多态性分析。

Analysis of HLA-DR and -DQ gene polymorphisms in Sudanese patients with type 1 (insulin-dependent) diabetes.

作者信息

Magzoub M M, Stephens H A, Gale E A, Bottazzo G F

机构信息

Department of Diabetes and Immunogenetics, St. Bartholomew's Hospital, West Smithfield, London, England.

出版信息

Immunogenetics. 1991;34(6):366-71. doi: 10.1007/BF01787486.

Abstract

In this study we report for the first time, the molecular analysis of HLA-DR and -DQ gene frequencies in a large cohort of well characterized type 1 (insulin-dependent) diabetes mellitus (IDDM) patients (n = 72), and ethnically matched controls (n = 59) collected in sub-Saharan Africa. High molecular mass DNA was prepared and analyzed in Southern blots with DRB1, DQA1, and DQB1 probes. By identifying DR and DQ allele-specific restriction fragment length polymorphisms (RFLPs), we have shown a strong positive association between IDDM and the Asp 57- DQB1 allele *0201 (DQw2). A rare DR4, DQw2 haplotype was also identified at high frequency in the IDDM cohort. We can now confirm that the association between Asp 57-DQB1 alleles and IDDM, previously reported in ethnically diverse cohorts collected in Western Europe, North America, and South Asia, is also present in an IDDM cohort collected in Africa.

摘要

在本研究中,我们首次报告了对撒哈拉以南非洲地区一大群特征明确的1型(胰岛素依赖型)糖尿病(IDDM)患者(n = 72)以及种族匹配的对照人群(n = 59)进行的HLA - DR和 - DQ基因频率的分子分析。制备了高分子量DNA,并使用DRB1、DQA1和DQB1探针在Southern印迹中进行分析。通过鉴定DR和DQ等位基因特异性限制性片段长度多态性(RFLP),我们发现IDDM与天冬氨酸57 - DQB1等位基因*0201(DQw2)之间存在强正相关。在IDDM队列中还高频鉴定出一种罕见的DR4、DQw2单倍型。我们现在可以确认,先前在西欧、北美和南亚收集的不同种族队列中报道的天冬氨酸57 - DQB1等位基因与IDDM之间的关联,在非洲收集的IDDM队列中也存在。

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