title: A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism.
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.
authors.affiliation: Molecular Immunopathology Unit, MRC Centre, Cambridge, U.K.
authors.forename: B A
authors.initials: BA
authors.lastname: Fernie
authors.forename: R
authors.initials: R
authors.lastname: Würzner
authors.forename: A
authors.initials: A
authors.lastname: Orren
authors.forename: M
authors.initials: M
authors.lastname: Hobart
mesh_terms: D001483:Base Sequence; D002648:Child; D003184:Complement C7 / Q000172:deficiency / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic
chemical_list: D003184:Complement C7