The frequency of heterozygous carriage of CFTR gene mutations causing the development of cystic fibrosis in a population-based cohort study (ESSE-Vologda)

Abstract

The aim of the study was to create a panel for screening the carriers of mutations associated with the development of cystic fibrosis (CF), and testing the panel on 642 participants of the population-based cohort study (ESSE-Vologda). Variants were detected using the QuantStudio 12K Flex Real-Time PCR system. A custom panel that includes 60 CFTR variants was created. Among 642 participants in the study, 23 heterozygous carriers of 6 CFTR mutations were identified. The carrier frequency was 3.58% (CI95%: 2.28-5.33%) or 1:28. The custom panel can be used for screening heterozygous CF carriers.