Frequency of allele variations in the CFTR gene in a Mexican population.

ABSTRACT:

Background

Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even undetermined in some countries like Mexico.

Methods

In this study, the allele frequencies of 361 variants in the CFTR gene were investigated in 1455 Mexicans without a CF or CFTR-related disorders (CFTR-RD) diagnosis. We also performed a statistical comparative analysis against allele frequencies of different populations to measure genetic differences in the prevalence of CFTR variants.

Results

In the vast majority of cases, the allele frequencies of this cohort were comparable to those found in other populations. However, some variants displayed si

SUBMITTER: Cantu-Reyna C 

PROVIDER: S-EPMC8569977 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature