LIMITED POLYMORPHISM OF THE HLA-DQA2 PROMOTER AND IDENTIFICATION OF A VARIANT OCTAMER
- Details
- Publication Year 1994-03,Volume 39,Issue #3,Page 225-229
- Journal Title
- HUMAN IMMUNOLOGY
- Publication Type
- Journal Article
- Abstract
- Previous studies have suggested that the HLA-DQA2 gene may be associated with IDDM. The apparently limited allelism at this locus prompted us to investigate whether this association might be with the level of gene expression rather than with specific alleles. The proximal promoter region of HLA-DQA2 was sequenced in three homozygous DR4;DQ8 subjects with IDDM, six homozygous DR3;DQ2 subjects (three healthy controls and three with IDDM), and selected DR4 and DRG cell lines. This 388-bp region encompassed the known control W/Z/H/S, X, and Y boxes and included a previously unremarked variant octamer sequence 40 bp upstream of the transcription start site. Only one polymorphic site was present among these 15 sequences, found in one DR3;DQ2 subject and a DR6;DQ6 cell line. This indicates that any disease association with HLA-DQA2, at least among DR3;DQ2 individuals, cannot be accounted for solely by polymorphism of the proximal promoter region.
- Publisher
- ELSEVIER SCIENCE INC
- Keywords
- MAJOR HISTOCOMPATIBILITY COMPLEX; CLASS-II GENES; DEPENDENT DIABETES-MELLITUS; DX-ALPHA GENE; HLA DNA POLYMORPHISMS; DR-ALPHA; CONSERVED SEQUENCE; BETA-GENES; CHAIN GENE; DQ-ALPHA
- Publisher's Version
- https://doi.org/10.1016/0198-8859(94)90264-X
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 1994-03-01 12:00:00