[Analysis of the spectra of mutations and polymorphic loci of cystic fibrosis transmembrane conductance regulator in the population of Bashkortostan].

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Article

[Analysis of the spectra of mutations and polymorphic loci of cystic fibrosis transmembrane conductance regulator in the population of Bashkortostan].

Genetika - 1 Sept 2002

Korytina G F, Viktorova T V, Baĭkova G V, Khusnutdinova E K

Abstract excerpt

The spectra of mutations and polymorphic loci of the gene of cystic fibrosis transmembrane conductance regulator (CFTR) was studied in 60 cystic fibrosis (CF) families from Bashkortostan. Mutations delF508, 394delTT, CFTRdele2,3(21 kb), R334W, and S1196X (33.3, 3.3, 1.7, 0.8, and 0.8%, respectively) were identified. The frequencies of tandem tetranucleotide repeat (TTR) alleles were determined for locus...

Topics

Bashkiria
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Haplotypes
Humans
Introns
Linkage Disequilibrium
Mutation
Polymorphism, Genetic
Tandem Repeat Sequences

Source

Open in PubMed

Identifiers

PMID: 12391889

Genes

CFTR
MET
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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