Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF family

Prenat Diagn. 1989 Apr;9(4):297-300. doi: 10.1002/pd.1970090410.

Abstract

A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.

Publication types

  • Case Reports

MeSH terms

  • Blotting, Southern
  • Cystic Fibrosis / genetics*
  • DNA / analysis
  • DNA / genetics
  • DNA Probes*
  • Genetic Counseling*
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Pedigree
  • Risk Factors

Substances

  • DNA Probes
  • DNA