Detection of disease-specific restriction fragment length polymorphisms in pemphigus vulgaris linked to the DQw1 and DQw3 alleles of the HLA-D region.

AUTOR(ES)

Szafer, F

RESUMO

Pemphigus vulgaris in Israeli Ashkenazi and non-Ashkenazi Jews and in Austrian non-Jewish patients is strongly associated with the DR4 and DRw6 alleles of the HLA-D region class II genes. Restriction fragment length polymorphism analysis was undertaken with DQ beta, DQ alpha, and DR beta cDNA probes. Hybridization with the DQ beta probe identifies Pvu II, BamHI, and EcoRV fragments that absolutely discriminate pemphigus vulgaris patients from healthy DR-, DQ-, and ethnic-matched controls. In contrast the DQ alpha and DR beta probes failed to identify disease-specific restriction fragment length polymorphism fragments. These studies indicate that DQw1 and DQw3 polymorphisms carried by pemphigus vulgaris patients may be directly involved in predisposition to the disease or may be tightly linked to the susceptibility gene itself. To our knowledge, this is the first example of an HLA restriction fragment length polymorphism that is highly associated with susceptibility to autoimmune disease.

Documentos Relacionados

• Granulocyte and HLA-D region specific monoclonal antibodies in the diagnosis of Hodgkin's disease.
• An extended HLA-D region haplotype associated with celiac disease.
• HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection.
• Analysis of HLA-D region-associated molecules with monoclonal antibody.
• Detection of HLA-D/DR-related DNA polymorphism in HLA-D homozygous typing cells.