Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
Indian Pediatr
;
2022 May; 59(5): 380-383
Article
| IMSEAR
| ID: sea-225330
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.
Full text:
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Index:
IMSEAR (South-East Asia)
Journal:
Indian Pediatr
Year:
2022
Type:
Article
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