Cystic Fibrosis Polymorphic Variants in a Russian Population.

ABSTRACT:

Purpose

Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the CFTR gene and to establish their allelic frequencies (AF) in one of the Russian regions where ethnic Russians predominate.

Patients and methods

The diagnostic panel was designed on the basis of data from the register of CF patients in Russia for 2017 and validated on 22 blood samples of patients with previously genetically established CF. The study participants (n=642) for CF variants estimation were randomly selected from the population-based

SUBMITTER: Kiseleva A 

PROVIDER: S-EPMC7894124 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature