[A molecular genetic analysis of the mutations in the exons of the CFTR gene in cystic fibrosis patients in Ukraine].
The results of DNA analysis of major mutations in CFTR gene in 260 families from Ukraine with high risk of cystic fibrosis are presented. The perspectives of molecular diagnosis as a main tool for cystic fibrosis prevention are discussed.
Livshyts'
L A
LA
D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012307:Risk Factors; D014455:Ukraine
C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA