DNA polymorphism of major histocompatibility complex class II and class III genes in systemic lupus erythematosus

Détails

ID Serval
serval:BIB_07A7C7569B96
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
DNA polymorphism of major histocompatibility complex class II and class III genes in systemic lupus erythematosus
Périodique
Tissue Antigens
Auteur(s)
So  A. K., Fielder  A. H., Warner  C. A., Isenberg  D. A., Batchelor  J. R., Walport  M. J.
ISSN
0001-2815 (Print)
Statut éditorial
Publié
Date de publication
03/1990
Volume
35
Numéro
3
Pages
144-7
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Résumé
We investigated the Taq I digested DNA restriction fragment length polymorphism (RFLP) of the Major Histocompatibility Complex (MHC) class II genes: HLA-DRB, -DQA, and the class III genes: C4 and 21-hydroxylase(CYP21) in 56 caucasoid patients with systemic lupus erythematosus (SLE) and 62 control subjects in order to define the molecular variation of these genes and their association with SLE. The results showed that the gene frequencies of both HLA-DR2 and -DR3 were significantly increased in the SLE population compared to normal subjects (DR2: 21.4% vs 10.7% chi 2 = 4.5. DR3: 29.6% vs 13.3%; chi 2 = 8.3). A high frequency of C4A and CYP21A gene deletions was also found in SLE patients (SLE 52%, normals 24%). All of 22 SLE patients, and 12 of 15 normal subjects who had C4A and CYP21A gene deletions had a 10.0kb Taq 1 DRB RFLP attributable to the presence of HLA-DR3. Family studies showed linkage of C4A/CYP21A deletions with HLA-B8 and -DR3, and confirmed the previously demonstrated association of the HLA-B8, DR3, C4A*Q0, C4*B1, Bf*S, C2*C haplotype with SLE. Deletions affecting the C4A and CYP21A genes were the commonest cause of C4A null alleles in SLE. No strong association between C4 null phenotype or C4 gene deletion, as determined by RFLP, was observed in patients who possessed DR2.
Mots-clé
Complement C4/genetics Genetic Predisposition to Disease HLA-DQ Antigens/genetics HLA-DR Antigens/genetics Humans Lupus Erythematosus, Systemic/*genetics Major Histocompatibility Complex/*genetics Polymorphism, Restriction Fragment Length Steroid 21-Hydroxylase/genetics
Pubmed
Web of science
Création de la notice
25/01/2008 8:39
Dernière modification de la notice
20/08/2019 12:30
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