Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.

Autor: Bulegenova M; 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. mbulegenova@yandex.kz., Macek M; National Center for Cystic Fibrosis, Prague, Czech Republic., Libik M; Department of Biology and Medical Genetics, Motol University Hospital, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic., Imangaliyeva A; Department of General Somatic, Scientific Center of Pediatrics and Children Surgery, Almaty, Kazakhstan., Makhneva A; Laboratory Department, Scientific Center of Pediatrics and Children Surgery, Almaty, Kazakhstan.
Jazyk: angličtina
Zdroj: Indian pediatrics [Indian Pediatr] 2022 May 15; Vol. 59 (5), pp. 380-383. Date of Electronic Publication: 2022 Mar 10.
Abstrakt: 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.
Databáze: MEDLINE
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