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Subtypes of HLA‐DQ and ‐DR defined by DQB1 and DRB1 RFLPs: allele frequencies in the general population and in insulin‐dependent diabetes (IDDM) and multiple sclerosis patients
Author(s) -
GOGOLIN K. J.,
KOLAGA V. J.,
BAKER L.,
LISAK R. P.,
ZMIJEWSKI C. M.,
SPIELMAN R. S.
Publication year - 1989
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1989.tb01802.x
Subject(s) - linkage disequilibrium , restriction fragment length polymorphism , genetics , haplotype , taqi , hla dq , allele , human leukocyte antigen , biology , allele frequency , population , hla dqb1 , immunology , medicine , antigen , gene , genotype , environmental health
SUMMARY We have used the HLA‐DQB1 gene as a Southern hybridization probe with TaqI‐digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA‐DQB1 RFLP patterns associated with the DR specificities DR1‐DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have also identified subtypes (multiple DQB1 band patterns), In a previous study (Cox Pt al. 1988), we identified RPLPs and subtypes with a DRB1 probe. Using the present results from DQB1 RFLPs to supplement those from DRB1 RFLPs, it was possible to discriminate among all the DR specificities with the exception of a minority of DR7 and DR9 subtypes. A comparison of DQB1 and DRB1 subtypes in the same subjects showed strong linkage disequilibrium for subtypes of some but not all DR specificities. We have also determined the allele frequencies of the DQBl subtypes in controls and in patients with insulin‐dependent diabetes mellitus (IDDM) or multiple sclerosis (MS). A consideration of subtypes in patients and controls indicated that for most DR specificities, neither IDDM nor MS was more strongly associated with any of the DQBl subtypes than with the serologically defined DR antigens. The exveptions were the DQBl patterns corresponding to the DQw3.2 subtype of DR4 and the rarer subtype of DR2, which were found in higher frequency in IDDM patients, as has been previously reported.