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A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism
B A Fernie1, R Würzner, A Orren
1Molecular Immunopathology Unit, MRC Centre, Cambridge, U.K.
Annals of Human Genetics
|March 1, 1996
Abstract:
We report a new polymorphism in the complement C7 gene that results from an A-C transversion in intron 12, 27 bp upstream of exon 13 (C712.-27) and 36 bp upstream of the point mutation that underlies the C7 M/N antigenic polymorphism. The C7 12.-27 polymorphism subdivides C7 M haplotypes, but not C7 N. It also sheds light on the evolution of the various types of deficiency genes at the adjacent C6 locus.