CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.

ABSTRACT:

Background

Molecular diagnosis of cystic fibrosis (CF) is challenging in Mexico due to the population's high genetic heterogeneity. To date, 46 pathogenic variants (PVs) have been reported, yielding a detection rate of 77%. We updated the spectrum and frequency of PVs responsible for this disease in mexican patients.

Methods

We extracted genomic DNA from peripheral blood lymphocytes obtained from 297 CF patients and their parents. First, we analyzed the five most frequent PVs in the Mexican population using PCR-mediated site-directed mutagenesis. In patients with at least one identified allele, CFTR sequencing was performed using next-generation sequencing tools and multiplex ligation-dependent probe amplification. For variants not previously classified as pathogenic,

SUBMITTER: Martinez-Hernandez A 

PROVIDER: S-EPMC11004572 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature