Characterization of three HLA-DR beta genes isolated from an HLA-DR 3/4 insulin-dependent diabetic patient

  title={Characterization of three HLA-DR beta genes isolated from an HLA-DR 3/4 insulin-dependent diabetic patient},
  author={D. Owerbach and C. Rich and K. Taneja},
Three HLA-DRβ genes were isolated from a Swedish HLA-DR3/4 insulin-dependent diabetes mellitus (IDDM) patient and characterized by restriction endonuclease mapping and nucleotide sequence analysis. Two out of the three DNA sequences differed from those of published DRβ-chain sequences. A DRβ-gene probe prepared from exon 4 and flanking sequences was used in a Southern blot analysis of blood donors' DNA and DNA from HLA-DR3/4 IDDM patients and HLA-DR-matched healthy control subjects. This probe… Expand
Comparison of DR β1 alleles from diabetic and normal individuals
No nucleotide differences in the coding region between the normal and diabetic alleles ofDR β 1 are found suggesting that DNA differences other than the DR β 1 coding region may accounts for the observed association of HLA-D and diabetes. Expand
Oligonucleotide probes for HLA-DQA and DQB genes define susceptibility to Type 1 (insulin-dependent) diabetes mellitus
DNA haplotypes were identified by restriction fragment length polymorphism analysis that correlated with previously serologically-defined extended major histocompatibility haplotypes that cannot be adequately explained by an amino acid change at a single position in the DQβ-chain. Expand
Structural variation among major histocompatibility complex class-II genes which predispose to autoimmunity
  • G. Nepom
  • Biology, Medicine
  • Immunologic research
  • 1989
The analysis of large pedigrees in multiply affected families also points to a direct HLA-associated genetic link, and the most widely used method for investigating genetic contributions to auto immune disease relies on the association of a clinical syndrome with Hla-typing specificities. Expand
Caracterisation et detection de sequences associees a des maladies autoimmunes
On a identifie des sequences d'ADN ainsi que des sequences d'amino acides correspondantes provenant de la region beta HLA (antigene de leucocyte humain) de classe II du genome humain, associees auExpand


HLA-D region β-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals
The β-chain cDNA probe, pDR-β-1, is used to test whether there are differences in hybridization pattern between DNA from healthy individuals and diabetic patients, after digestion with restriction endonucleases, among the HLA-DR 4 and 3/4 individuals. Expand
HLA-D and -DR antigens in genetic analysis of insulin dependent diabetes mellitus
Based on analysis of HLA-haplotype sharing in affected sibling pairs, a simple dominant model of inheritance could be ruled out, and a simple recessive model was found unlikely, arguing against an intermediate genetic model. Expand
Characterization of an HLA DR beta pseudogene.
Analysis of the pattern of nucleotide substitutions in the second domain exon suggests that most amino acid replacements occurred after the gene was inactivated, and the DR beta pseudogene seems to be present also in other DR4 individuals. Expand
DNA sequence and characterization of human class II major histocompatibility complex beta chains from the DR1 haplotype.
  • J. Bell, P. Estess, +4 authors H. Mcdevitt
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1985
Two HLA class II beta-chain clones from a cell line homozygous for the DR1 haplotype have been characterized and sequenced, and it is speculated that the DQ beta sequence represents the D Q1 specificity shared by theDR1 and DRw6 haplotypes. Expand
Complete sequence of an HLA‐dR beta chain deduced from a cDNA clone and identification of multiple non‐allelic DR beta chain genes.
At least three polymorphic class II antigens are encoded in the human major histocompatibility complex (HLA): DR, DC and SB, and at least two non‐allelic DR beta chain genes exist. Expand
N-terminal amino acid sequences of the alpha and beta chains of HLA-DR1 and HLA-DR2 antigens.
In the first 35 N-terminal residues of the beta chains from HLA-DR1 and HLA -DR2 antigens, two regions of variability are readily apparent, and one or both of these variability regions may be responsible for the serologically defined polymorphism of H LA-DR alloantigens. Expand
The HLA class II genes and products: the HLA-D region.
  • F. Bach
  • Biology, Medicine
  • Immunology today
  • 1985
Today the understanding of the HLA-D region is based not only on serological and T-lymphocyte responses to class II products but also on protein and DNA studies. Expand
Cloning and sequence analysis of the human major histocompatibility complex gene DC-3 beta.
  • J. Boss, J. Strominger
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1984
Southern blot analysis of several homozygous cell lines shows that there are two DC beta genes, corresponding to a polymorphic restriction fragment, and comparison of the mouse A beta sequences shows only two prominent diversity regions. Expand
HLA-DR typing in identical twins with insulin-dependent diabetes: difference between concordant and discordant pairs.
It is suggested that possession of both DR3 and DR4 antigens confers a greater genetic predisposition to insulin-dependent diabetes than does the possession of either antigen alone. Expand
Isolation of a cDNA clone coding for an SB β-chain
The isolation of a cDNA clone as well as a genomic clone encoding a β-chain whose amino acid sequence is compatible with the partial amino-terminal sequence of SB β-chains are described. Expand