A Newly Characterized HLA DQβ Allele Associated with Pemphigus Vulgaris

AA Sinha, C Brautbar, F Szafer, A Friedmann, E Tzfoni… - Science, 1988 - science.org
AA Sinha, C Brautbar, F Szafer, A Friedmann, E Tzfoni, JA Todd, L Steinman, HO McDevitt
Science, 1988science.org
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 …
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.
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