Magzoub M M, Stephens H A, Gale E A, Bottazzo G F
Department of Diabetes and Immunogenetics, St. Bartholomew's Hospital, West Smithfield, London, England.
Immunogenetics. 1991;34(6):366-71. doi: 10.1007/BF01787486.
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.
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。