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.

Department of Biology and Medical Genetics Motol University Hospital 2nd Faculty of Medicine Charles University Prague Czech Republic

Department of General Somatic Scientific Center of Pediatrics and Children Surgery Almaty Kazakhstan

Laboratory Department Scientific Center of Pediatrics and Children Surgery Almaty Kazakhstan

Laboratory Department Scientific Center of Pediatrics and Children Surgery Almaty Kazakhstan Correspondence to Dr Munira Bulegenova Laboratory Department Scientific Center of Pediatrics and Children Surgery Almaty Kazakhstan

National Center for Cystic Fibrosis Prague Czech Republic