چهارشنبه 8 مهر 1405
دوره 14، شماره 3 - ( 6-1405 )
جلد 14 شماره 3 صفحات 308-301 |
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Hokmabadi S, Jalali H, Amirzadegan M, Mahdavi M R. CFTR Variant Analysis of Patients With Cystic Fibrosis in Mazandaran Province, North of Iran. J. Pediatr. Rev 2026; 14 (3) :301-308
URL: http://jpr.mazums.ac.ir/article-1-823-fa.html
URL: http://jpr.mazums.ac.ir/article-1-823-fa.html
CFTR Variant Analysis of Patients With Cystic Fibrosis in Mazandaran Province, North of Iran. Journal of Pediatrics Review. 1405; 14 (3) :301-308
چکیده: (20 مشاهده)
Background: Cystic fibrosis (CF) is a monogenic autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene on chromosome 7. While the ΔF508 mutation is globally predominant, accounting for about 70% of CF cases, Iran exhibits a highly heterogeneous CFTR mutation spectrum.
Objectives: This study aimed to investigate the molecular profile of CF in people from Mazandaran Province, northern Iran.
Methods: We included 17 patients with CF (7 males and 10 females) from unrelated families in Mazandaran Province. The polymerase chain reaction (PCR)-Sanger sequencing was used to find common CFTR pathogenic variants in 14 patients, while whole exome sequencing (WES) and confirmatory Sanger testing were used to identify rare or novel variants in three patients.
Results: Nine distinct pathogenic variants were identified, with c.19911del emerging as the most frequent (25% of mutant alleles), surpassing the globally dominant ΔF508 variant.
Conclusions: The findings highlight the region-specific genetic landscape of CF and emphasize the need for tailored diagnostic strategies in Iran.
Objectives: This study aimed to investigate the molecular profile of CF in people from Mazandaran Province, northern Iran.
Methods: We included 17 patients with CF (7 males and 10 females) from unrelated families in Mazandaran Province. The polymerase chain reaction (PCR)-Sanger sequencing was used to find common CFTR pathogenic variants in 14 patients, while whole exome sequencing (WES) and confirmatory Sanger testing were used to identify rare or novel variants in three patients.
Results: Nine distinct pathogenic variants were identified, with c.19911del emerging as the most frequent (25% of mutant alleles), surpassing the globally dominant ΔF508 variant.
Conclusions: The findings highlight the region-specific genetic landscape of CF and emphasize the need for tailored diagnostic strategies in Iran.
نوع مطالعه: Original Article |
دریافت: 1404/8/19 | پذیرش: 1405/6/28 | انتشار: 1405/6/28
دریافت: 1404/8/19 | پذیرش: 1405/6/28 | انتشار: 1405/6/28
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