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Article in BMC Medical Genetics Journal by the FSBI RCMG researchers

The BMC Medical Genetics journal (IF 2.168) published the article by the FSBI RCMG team:

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter, R. A. Zinchenko.

BMC Medical Genetics, 2019, 20:44.

The data of genetic and clinical examination of 32 patients with cystic fibrosis (CF) from 31 unrelated Chechen families living in Chechnya were analyzed. High frequencies of c.1545_1546delTA and c.274G> A (more than 90% of mutant alleles) was detected. The c.274G> A mutation is associated with a less severe CF course than homozygotes with the c.1545_1546delTA mutation. Testing of these two options is proposed as the first step in the DNA diagnosis of CF in Chechen population.