[Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes]
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Updated: May 18, 2026

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
Published on: April 18, 2025
Abstract:
Molecular genetic study of the CFTR gene in cystic fibrosis patients from the Chuvash Republic is presented. We found linkage disequilibrium of the disease with 22-7-16-13 haplotype using intragenic markers. Major mutation p.E92K was revealed in chromosomes carrying this haplotype. The frequency of this mutation in Chuvash patients was 66.6%. Population study of the distribution of two mutations (p.E92K and F508del) of the CFTR gene revealed that their population frequency in heterozygous carriers was one per 37 subjects while calculated cystic fibrosis frequency in Chuvashia is one per 5420 newborns.
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