Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7

Cytogenet Cell Genet. 1986;41(4):234-9. doi: 10.1159/000132235.

Abstract

A linkage has been detected between the locus for cystic fibrosis (CF) and the pro alpha 2(I) collagen gene (COL1A2) which is located in the region q21.3----q22.1 of chromosome 7. Based on the combined linkage data derived from 50 informative two-generation nuclear families collected in Canada and Denmark, the distance between COL1A2 and CF is estimated to be 19 centiMorgans. Close linkage has also been detected between COL1A2 and the DNA marker D7S15 (formerly D0CRI-917) and the serum enzyme activity marker paraoxonase (PON), both of which have previously been found linked to CF. The results of the two-point and three-point linkage analyses indicate that the most probable order of these four genetic loci is COL1A2-D7S15 - PON - CF.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, 6-12 and X*
  • Cystic Fibrosis / genetics*
  • DNA Restriction Enzymes
  • Female
  • Genes*
  • Genetic Linkage*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Probability
  • Procollagen / genetics*

Substances

  • Procollagen
  • DNA Restriction Enzymes