Heterogeneity in the structural basis of the human complement C4A null allele (C4A Q0) as revealed by HindIII restriction fragment length polymorphism analysis.
The highly polymorphic fourth component of human complement (C4) is usually encoded by two genes. C4A and C4B, adjacent to the 21-hydroxylase (21-OH) genes, 21-OHA and 21-OHB, and is also remarkable in the high frequency of the 'null' alleles, C4A Q0 and C4B Q0. The molecular basis for the C4A Q0 allele was studied in 26 families through restriction fragment length polymorphism (RFLP) analysis with C4 and 21-OH cDNA probes after digestion of the DNA with the endonuclease HindIII. The individuals expressing the extended haplotype HLA-A1 (of A2) Cw7 B8 C2C BfS C4AQ0B1 DR3 have a large deletion taking off the C4A and 21-OHA genes.
D000483:Alleles; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003181:Complement C4 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004274:DNA, Recombinant / Q000032:analysis; D005796:Genes; D006680:HLA Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D006801:Humans; D008285:Major Histocompatibility Complex; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D003181:Complement C4; D004274:DNA, Recombinant; D006680:HLA Antigens; D006684:HLA-DR Antigens; D004247:DNA