[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].
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 CFTR gene were screened. In this way, 5 CF alleles may be characterized: 1 allele with R334W (the 7th exon) 1 with 1677 delTa (the 10th exon), 1 allele with G551D and 2 alleles with R553X (the 11th exon). We have screened 865 healthy donors for F508 from different regions of Ukraine. The frequency of heterozygous carriers in different regions ranged from 1:28 to 1:170. Strong linkage imbalance was found between polymorphic markers of 4 bp tandem repeats from the 3'-end of the sixth intron in the CFTR gene and deletion F508.
Kravchenko
S A
SA
Livshits
L A
LA
D000328:Adult; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D007438:Introns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012307:Risk Factors; D014455:Ukraine / Q000453:epidemiology
D015345:Oligonucleotide Probes; D004247:DNA
Analiz mutatsiĭ v 7, 10, 11-m ékzonakh i polimorfizma chetyrekh nukleotidnykh tandemnykh povtorov 3'-kontsa 6-go introna gena TRBM v sem'iakh s vysokim riskom mukovistsidoza iz Ukrainy.