Article
[An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis].
TSitologiia i genetika - 1 Jan 2000
Kravchenko S A, Livshits L A
Abstract excerpt
Mutations in the CFTR gene have been screened in 110 families from Ukraine with high risk of cystic fibrosis. Deletion F508 was found in 121 (55%) of 220 CF alleles. Among the rest mutant alleles (with the absence of delta F508) six other mutations occurring in the 7th, 10th, 11th exons of the CF...
Topics
- Adult
- Alleles
- Child
- Cystic Fibrosis
- DNA
- Exons
- Gene Deletion
- Genetic Carrier Screening
- Humans
- Introns
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Risk Factors
- Ukraine