A DR3-related DX alpha gene polymorphism strongly associates with insulin-dependent diabetes mellitus

HLA-DQ alpha and HLA-DX alpha gene polymorphisms were analyzed by Southern blot techniques in 78 Caucasoid insulin-dependent diabetes mellitus (IDDM) subjects and 55 control subjects. Five restriction fragment length polymorphisms of the HLA-DQ alpha gene correlated with HLA-DR typing. Two allelic D...

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Bibliographic Details
Published in:Immunogenetics (New York) 1986, Vol.23 (1), p.47-51
Main Authors: Hitman, G A, Sachs, J, Cassell, P, Awad, J, Bottazzo, G F, Tarn, A C, Schwartz, G, Monson, J P, Festenstein, H
Format: Article
Language:English
Subjects:
Chromosome Mapping
Diabetes Mellitus, Type 1 - genetics
DNA Restriction Enzymes
Gene Frequency
Genetic Linkage
Genotype
Histocompatibility Antigens Class II - genetics
HLA-DQ Antigens
HLA-DR3 Antigen
Humans
Pedigree
Polymorphism, Genetic
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Summary:HLA-DQ alpha and HLA-DX alpha gene polymorphisms were analyzed by Southern blot techniques in 78 Caucasoid insulin-dependent diabetes mellitus (IDDM) subjects and 55 control subjects. Five restriction fragment length polymorphisms of the HLA-DQ alpha gene correlated with HLA-DR typing. Two allelic DX alpha-related gene fragments, of 2.1 kb (U) and 1.9 kb (L) in size were identified. Genotype frequencies in the IDDM group for UU, UL, and LL were 54%, 38.5%, and 7.5%, respectively, whereas the corresponding frequencies in the control group were 24%, 40%, and 36% (P less than 0.00005 for differences in genotype frequencies). The U allele was associated particularly with IDDM patients who were DR3, with healthy controls who were DR3, as well as with IDDM patients who were not DR3. Thus, if this DX alpha U allele is not the DR3-associated IDDM susceptibility gene, it is the closest marker hitherto studied.
ISSN:0093-7711
DOI:10.1007/BF00376521