Immunogenetics of multiple sclerosis: an investigation of the alleles of the HLD-A region

Abstract

Multiple sclerosis (MS) is associated with the HLA-DQ and DR2 specificities in European and North American Caucasian populations, and this study examines the increased association of MS with the DQB1 rather than the DR2 alleles. The study explores the PCR-RFLP methodology used in the characterisation and detection of HLA variation, and the polymorphism of the DQB1 alleles and its association with MS susceptibility. The PCR-RFLP technique involves the analysis of electrophoretically separated restriction fragments produced by the digestion of the amplified products with restriction endonucleases at allele specific sites. Four sets of primers were used, and the association of MS with the genes of the DR and DQ region loci was determined by PCR-RFLP typing of 100 MS patients and 100 controls. There was a positive MS association with the DQB1 alleles encoding shared amino acid sequences and those encoding Leucine at amino acid residue 26. However, these associations were secondary to that of the DRB1-1501, DQA1-0102, DQB1-0602 haplotype. No protective association with MS and the DQB1-0301 allele was found. The positive association between MS and the DQB1-0602 allele was confirmed, but it was difficult to assess whether the DQB1-0602 or the DRB1-1501 is the primary contributor to MS association

Date of Award	1995
Original language	English