Some disease-associated ancestral haplotypes carry a polymorphism of TNF.
We describe here an Nco I restriction fragment length polymorphism of tumor necrosis factor carried by the 8.1 (HLA-A1,B8,BfS,C4AQ0,C4B1,DR3) and the 44.1 (HLA-B44,BfS,C4A3,C4BQ0,DR4) ancestral haplotypes associated with complications of rheumatoid arthritis. By examining multiple examples of these and other ancestral haplotypes it was seen that 8.1 and 44.1 ancestral haplotypes yield fragments of approximately 5.5 kb while many other ancestral haplotypes carry fragments of approximately 10.5 kb. The polymorphism is associated with the ancestral haplotype rather than the HLA-B or -DR allele defined by conventional serology.
Dawkins
R L
RL
Department of Clinical Immunology, Royal Perth Hospital, Queen Elizabeth II Medical Centre, Western Australia.
Leaver
A
A
Cameron
P U
PU
Martin
E
E
Kay
P H
PH
Christiansen
F T
FT
D002461:Cell Line, Transformed; D004591:Electrophoresis, Polyacrylamide Gel; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000276:immunology; D006680:HLA Antigens / Q000276:immunology; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
D006680:HLA Antigens; D014409:Tumor Necrosis Factor-alpha