A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene

Hum Genet. 1995 Apr;95(4):465-6. doi: 10.1007/BF00208980.

Abstract

Here we describe a new polymorphism, located in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene at nucleotide position 1104 (C-->G), detected by a single-strand conformational polymorphism (SSCP) analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / analysis
  • DNA Primers / chemistry
  • Exons / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational

Substances

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