Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

Hum Genet. 1992 Feb;88(4):479-81. doi: 10.1007/BF00215687.

Abstract

We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the delta F508 mutation (i.e. with at least one parent not carrying delta F508) or closely linked DNA markers. At least 13 different alleles ranging from 7 to 45 repeats were observed and the detected heterozygosity was 89%. Of the 23 families studied, 19 were fully informative for prenatal diagnosis or carrier detection, 3 were partially informative and one was not informative. In 6 families, prenatal diagnosis for CF or carrier detection in siblings of CF cases were performed using this polymorphism.

Publication types

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

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Introns*
  • Male
  • Membrane Proteins / genetics
  • Pedigree
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA