[Sequence of HLA-DQA1 promoter region in the Han people]

Polymorphism of HLA-DQA1 promoter region (QAP) in the Han people has been identified. The results revealed a number of differences, some of which are in the critical class II boxes, and generally conserved in HLA-DQA1 promoter region. The major differences occurred in the X box, Y box and S box. Within the X box, the Hans carry a A at position -111, instead of a G, and a G or a A can be present at position -98. Within the S box, the Hans carry a G at position -131. Within the Y box, position -71 is a A rather than a G. Some single base substitutions have been detected from IDDM patients at the 5'-flanking region of the S box and between X box and Y box. Particularly, the insertion of CCA bases has been identified at the position between -157 and -158 in a IDDM patient. These data suggest that the polymorphism of HLA-DQA1 promoter region may play a role in susceptibility to IDDM.