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Article

[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].

Genetika - 1 Jul 1994

Petrova N V, Ginter E K, Kapranov N I, El'chinova G I

Abstract excerpt

A sample of 165 patients who were inhabitants of Russia was screened for seven CFTR gene mutations, and analysis of polymorphism frequency at two marker loci (KM19 and VNTR in intron 6 of the CFTR gene) was performed in normal and mutant chromosomes. The frequencies of mutations in 330 mutant chromosomes were distributed as follows: delta F508, 57.5%; G542X, 1.07%; and R33AW, 0.45%. Mutations G551D, R553X, R347P,...

Topics

Alleles
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Markers
Genetics, Population
Haplotypes
Humans
Linkage Disequilibrium
Membrane Proteins
Mutation
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Russia

Source

Identifiers

PMID: 7525404

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7525404-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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