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Heterogeneity in the structural basis of the human complement C4A null allele (C4A*Q0) as revealed by Hin dIII restriction fragment length polymorphism analysis
Author(s) -
Uring-Lambert Béatrice,
Vegnaduzzi Nathalie,
Carroll Michael C.,
Tongio Marie-Marthe,
Goetz Joëlle,
Hauptmann Georges
Publication year - 1987
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(87)81244-9
Subject(s) - c4a , biology , restriction fragment length polymorphism , null allele , restriction enzyme , hindiii , genetics , allele , microbiology and biotechnology , gene , haplotype , complementary dna , genotype
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.