An NcoI polymorphism in the human complement component 7 (C7) gene

J Hum Genet. 1999;44(4):270-1. doi: 10.1007/s100380050159.

Abstract

A novel polymorphic site has been found in the 3' untranslated region (UTR) of the human complement component 7 (C7) gene. The polymorphic site at 14-bp down-stream from the TAG stop codon was either C or A (Nco I-digested), with allele frequencies of 0.660 and 0.340. This NcoI polymorphism would be useful to perform a DNA marker haplotype study in patients with deficiencies of the complement genes, such as C6, C7, C9, which are located closely on chromosome 5p13.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 5
  • Complement C7 / genetics*
  • Deoxyribonucleases, Type II Site-Specific / genetics*
  • Genetic Markers
  • Haplotypes
  • Humans
  • Polymorphism, Genetic*

Substances

  • Complement C7
  • Genetic Markers
  • endodeoxyribonuclease NcoI
  • Deoxyribonucleases, Type II Site-Specific