A rare complement component C4 restriction fragment length polymorphism in two families with systemic lupus erythematosus.
C4 null alleles with or without C4A,21-OHA gene deletions are associated with systemic lupus erythematosus (SLE) in various populations. We describe a new, rare C4 restriction fragment length polymorphism (RFLP), a Taq I 3.5 kb fragment, in 2 patients with SLE and their families. This RFLP is not associated with one particular major histocompatibility complex (MHC) haplotype and has not been reported in patients with SLE, patients with congenital adrenal insufficiency, or in healthy individuals.
Division of Rheumatology, Ottawa General Hospital, University of Ottawa, ON, Canada.
R
R
Goldstein
J M
JM
Moulds
D P
DP
Sengar
D000328:Adult; D000483:Alleles; D015139:Blotting, Southern; D002872:Chromosome Deletion; D003181:Complement C4 / Q000235:genetics*; D015935:Complement C4b; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008285:Major Histocompatibility Complex / Q000235:genetics; D008297:Male; D010446:Peptide Fragments; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D003181:Complement C4; D010446:Peptide Fragments; C033860:complement C4c; D015935:Complement C4b