Abstract
Susceptibility genes for coeliac disease are associated with certain HLA-DR genotypes. More recent studies also show strong association with some HLA-DQ alleles. We have examined the presence of disease associated HLA-DQ alleles by restriction fragment length polymorphism (RFPL) with the help of a HLA-DQ alpha cDNA probe. This probe showed upon hybridization a highly significant discrepancy between the RFLP of coeliac disease patients and healthy controls. The 4.0 kb. Bgl II restriction fragment was present in 97% of coeliac disease patients (n=30), compared to 56% in a healthy control population (n=72) (RR= 14.9; p<0.0005). This fragment is associated with HLA-DR3, -5, some DRw8, and DRw14Dw16. This was confirmed by the analysis of the panel of 72 homozygous typing cells obtained from the Xth International Workshop on Histocompatibility Testing.
At the product level all coeliac disease patients tested sofar have one DQ alpha chain in common, designated HLA-DQ alpha 2.3, which is associated with the 4.0 kb Bgl II fragment. This HLA-DQ alpha allele identified at the DNA level and product level seems to be a better marker for genetic susceptibility to develop coeliac disease than those available sofar.
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Roep, B., Bontrop, R., Pena, A. et al. 10 AN HLA-DQ ALPHA ALLELE IDENTIFIED AT DNA AND PROTEIN LEVEL IS STRONGLY ASSOCIATED WITH COELIAC DISEASE. Pediatr Res 24, 406 (1988). https://doi.org/10.1203/00006450-198809000-00033
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DOI: https://doi.org/10.1203/00006450-198809000-00033