Freely Accessible Science Journals od 1991
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PubMed
35273129
Knihovny.cz E-zdroje
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.
- MeSH
- cystická fibróza * epidemiologie genetika MeSH
- genotyp MeSH
- lidé MeSH
- mutace MeSH
- protein CFTR * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Kazachstán MeSH
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