Mutational Spectrum of the CFTR Gene in the Kazakhstan Population

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F22%3A10444546" target="_blank" >RIV/00064203:_____/22:10444546 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/22:10444546

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PMHEIqMFbS" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PMHEIqMFbS</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s13312-022-2518-1" target="_blank" >10.1007/s13312-022-2518-1</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Mutational Spectrum of the CFTR Gene in the Kazakhstan Population

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Mutational Spectrum of the CFTR Gene in the Kazakhstan Population

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Indian Pediatrics

ISSN

0019-6061

e-ISSN

0974-7559

Svazek periodika

59

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

IN - Indická republika

Počet stran výsledku

4

Strana od-do

380-383

Kód UT WoS článku

000805198600006

EID výsledku v databázi Scopus

2-s2.0-85130633781