Clinical and serological evidence of connective tissue disease was found in a high proportion of 132 family members of 30 patients with systemic sclerosis. In 20 probands with the milder CREST form of the disease, 10 had HLA-DR5 and 12 had null alleles at the C4 loci. None of 11 probands with more severe systemic sclerosis had HLA-DR5; all 11 had null alleles at the C4 loci. All but two of the probands had either HLA-DR5 or a C4 null allele, and this was also the case for the majority of the relatives with autoantibodies. Genetic markers of the major histocompatibility complex, including HLA-DR5 and C4 null alleles, appear to be closely associated with markers of disease in these probands and their families.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.
J Endocrinol Invest
June 1992
Istituto di Endocrinologia, I Facoltà di Medicina e Chirurgia, Università di Napoli, Italy.
HLA haplotypes, complement C4 factor and factor B immunochemical concentrations and autoantibodies titer have been studied in six patients with mild congenital adrenal hyperplasia (MC-AH), in two patients with classical congenital adrenal hyperplasia (CCAH) and in their parents. A high frequency of DR5 and C4BQO alleles have been found in MCAH patients. Moreover, C4BQO allele is carried out in three out of four cases associated with DR5.
View Article and Find Full Text PDFAlleles at four HLA class II loci determined by oligonucleotide hybridization and their associations in five ethnic groups.
Immunogenetics
December 1991
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8886.
The use of polymerase chain reaction (PCR) and oligonucleotide hybridization offers a new approach for the definition of HLA class II alleles. It has been possible to determine 43 alleles of DRB1, four of DRB3, two of DRB4, four of DRB5, eight of DQA1, and 14 of DQB1. These alleles are inherited together in members of families and form closely associated groups which are found repeatedly and in characteristic patterns in different populations.
View Article and Find Full Text PDFFunctional polymorphism of the HLA-DR beta III chain.
Hum Immunol
January 1988
American Red Cross Blood Services, Madison, Wisconsin 53705.
Several clusters of class II HLA genes contribute to variation in human antigen-presenting capacity. In the HLA-DR cluster, most of the variation is due to the highly polymorphic DR beta I gene. Recent work by others has shown some nucleotide and implied amino acid sequence variation in DR beta III chains, but this variation is not known to be functionally significant.
View Article and Find Full Text PDFAutoantibodies and immunogenetics in 30 patients with systemic sclerosis and their families.
J Rheumatol
August 1987
Department of Rheumatology, West Middlesex Hospital, London, United Kingdom.
Clinical and serological evidence of connective tissue disease was found in a high proportion of 132 family members of 30 patients with systemic sclerosis. In 20 probands with the milder CREST form of the disease, 10 had HLA-DR5 and 12 had null alleles at the C4 loci. None of 11 probands with more severe systemic sclerosis had HLA-DR5; all 11 had null alleles at the C4 loci.
View Article and Find Full Text PDFHuman MHC class III genes, BF and C4. Polymorphism, complotypes and HLA class I and II associations in the Lombardy population (Italy).
Gene Geogr
August 1987
Dipartimento di Genetica e Microbiologia A. Buzzati-Traverso, Università di Pavia, Italy.
The polymorphisms of the fourth component of human serum complement and factor B (BF) (controlled by class III MHC genes) was investigated in a panel of 250 unrelated individuals from the Lombardy population, previously HLA typed (A, B, C, DR, DQ antigens) and in 25 families. Nine different alleles at the C4A and eight at the C4B loci were detected. At both loci, alleles without a gene product (i.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!