Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.

ABSTRACT:

Objective

To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children.

Material and methods

This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis dis

SUBMITTER: Basaran AE 

PROVIDER: S-EPMC8975339 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature