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The HLA-DR3 haplotype is associated with increased risk of myasthenia gravis (MG) and a number of other autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM), coeliac disease, and premature ovarian failure (POF). With a cDNA probe for a DQ beta gene, a 15 kb Hinc II restriction fragment has been demonstrated in genomic DNA from 7 of 16 HLA-DR3 patients with MG, 1 of 19 healthy DR3 controls, and none of 24 DR3 patients with IDDM, coeliac disease, or POF. The HLA-DQ polymorphism may be closely linked to a genetic locus regulating immune responsiveness to acetylcholine receptor and susceptibility to MG.

Original publication

DOI

10.1016/s0140-6736(86)91330-9

Type

Journal article

Journal

Lancet (London, England)

Publication Date

05/1986

Volume

1

Pages

1058 - 1060

Keywords

Humans, Celiac Disease, Myasthenia Gravis, Ovarian Diseases, Diabetes Mellitus, Type 1, DNA Restriction Enzymes, Genetic Markers, Histocompatibility Antigens Class II, HLA-DQ Antigens, HLA-DR3 Antigen, Hybridization, Genetic, Polymorphism, Genetic, Female, Genetic Carrier Screening