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The inheritance of particular alleles of major histocompatibility complex class II genes increases the risk for various human autoimmune diseases; however, only a small percentage of individuals having an allele associated with susceptibility develop disease. The identification of allelic variants more precisely correlated with disease susceptibility would greatly facilitate clinical screening and diagnosis. Oligonucleotide-primed gene amplification in vitro was used to determine the nucleotide sequence of a class II variant found almost exclusively in patients with the autoimmune skin disease pemphigus vulgaris. In addition to clinical implications, the disease-restricted distribution of this variant should provide insight into the molecular mechanisms underlying associations between diseases and HLA-class II genes.

Original publication




Journal article


Science (New York, N.Y.)

Publication Date





1026 - 1029


Department of Medical Microbiology, Stanford University, CA 94305.


Humans, Pemphigus, Autoimmune Diseases, DNA, HLA-D Antigens, HLA-DQ Antigens, HLA-DR Antigens, Nucleic Acid Hybridization, Gene Amplification, Base Sequence, Polymorphism, Restriction Fragment Length, Alleles, Molecular Sequence Data, Genetic Variation