Abstract
Objective To study the frequency and spectrum of CFTR gene variants in different ethnic groups of Kazakhstan. Methods We reviewed the records of 58 patients with cystic fibrosis.
All the patients underwent molecular genetic analysis to reveal genotype-phenotype correlations. Results The median (IQR) age of the patients was 5.4 year (7 months, 18 year); 40% were diagnosed at the age of 5-10 year.
The study identified 28 specific variants: p.Phe508del, the variant most common in the European population, was detected in 30 patients (51.7%). Variants other than p.Phe508del were revealed in 31% (21 patients).
Conclusions We found a number of specific variants characteristic of the Kazakhstani population. A pronounced regression of disease symptoms was detected in patients with mild mutations; whereas in patients with severe mutations, therapy produced very little effect.