Price P, Bolitho P, Jaye A, Glasson M, Yindom L-M, Sirugo G, Chase D, McDermid J, Whittle H
School of Pathology and Surgery, University of Western Australia, Nedlands, Australia.
Tissue Antigens. 2003 Jul;62(1):72-5. doi: 10.1034/j.1399-0039.2003.00083.x.
Caucasians carry TNFA-3082 in the 8.1 ancestral haplotype (AH) (HLA-A1,B8,DR3). In Gambians, TNFA-3082 occurs without HLA-B8 or -DR3, suggesting an independent effect of TNFA-308 on disease. Hence we sought a segment of the 8.1 AH in Gambians. BAT1 (intron 10)2 was selected as a specific marker of the haplotype and was found with TNFA-3082 in Gambians. Samples homozygous at TNFA-308 and BAT1 (intron 10) demonstrated identity between the African TNFA-3082 haplotype, the 8.1AH and the Asian diabetogenic 58.1AH (HLA-A33,B58,DR3) across a region spanning BAT1, ATP6G, IKBL, LTA, TNFA, LTB, LST-1 and AIF-1. Conservation of this block in geographically distinct populations suggests a common evolutionary origin and challenges current views of the role of TNFA-3082 in disease.
高加索人在8.1祖先单倍型(AH)(HLA - A1、B8、DR3)中携带TNFA - 3082。在冈比亚人中,TNFA - 3082在没有HLA - B8或 - DR3的情况下出现,这表明TNFA - 308对疾病有独立影响。因此,我们在冈比亚人中寻找8.1 AH的一个片段。BAT1(内含子10)2被选为该单倍型的特异性标记,并且在冈比亚人中发现它与TNFA - 3082同时存在。在TNFA - 308和BAT1(内含子10)处纯合的样本显示,在跨越BAT1、ATP6G、IKBL、LTA、TNFA、LTB、LST - 1和AIF - 1的区域内,非洲的TNFA - 3082单倍型、8.1 AH和亚洲致糖尿病的58.1 AH(HLA - A33、B58、DR3)之间具有一致性。这一区域在地理上不同的人群中的保守性表明其具有共同的进化起源,并对当前关于TNFA - 3082在疾病中作用的观点提出了挑战。