[An analysis of the mutations in the mucoviscidosis gene: the origin and distribution of the delF508 major mutation in Ukraine]

Tsitol Genet. 1995 Nov-Dec;29(6):67-73.
[Article in Russian]

Abstract

Seven mutations in CFTR gene have been screened in patients with cystic fibrosis from Ukraine. The frequency of major mutation delF508 among patients and healthy donors from different regions was studied. Data of age, origin and possible ways of spreading of this mutation in Ukraine have been discussing.

Publication types

  • Comparative Study
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons / genetics
  • Gene Frequency / genetics
  • Genetics, Population
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Mutation / genetics*
  • Reference Values
  • Ukraine / epidemiology

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator