A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism

Ann Hum Genet. 1996 Mar;60(2):179-82. doi: 10.1111/j.1469-1809.1996.tb01187.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Complement C7 / deficiency
  • Complement C7 / genetics*
  • Gene Frequency
  • Humans
  • Introns / genetics*
  • Molecular Sequence Data
  • Point Mutation / genetics
  • Polymorphism, Genetic*

Substances

  • Complement C7