Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

ABSTRACT:

Background

Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.

Objective

Determine the pattern of CFTR variants in the CF population of Saudi Arabia.

Design

A retrospective, descriptive.

Setting

Tertiary care center.

Patients and methods

We examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017.

Main outcome measures

Zygosity, morbidity and mortality patterns of different types of CFTR variants.

Sample size

312 families

SUBMITTER: Banjar HH 

PROVIDER: S-EPMC7012030 | biostudies-literature | 2020 Jan-Feb

REPOSITORIES: biostudies-literature