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Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

Objectives: Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mutations and their geographical distribution in Iran...

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Autores principales: Hosseini Nami, Amin, Kabiri, Mahboubeh, Zafarghandi Motlagh, Fatemeh, Shirzadeh, Tina, Fakhari, Negar, Karimi, Ali, Bagherian, Hamideh, Jamali, Mojdeh, Younesikhah, Shahrzad, Shadman, Sara, Zeinali, Razie, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234504/
https://www.ncbi.nlm.nih.gov/pubmed/37274793
http://dx.doi.org/10.3389/fgene.2023.1140034
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author Hosseini Nami, Amin
Kabiri, Mahboubeh
Zafarghandi Motlagh, Fatemeh
Shirzadeh, Tina
Fakhari, Negar
Karimi, Ali
Bagherian, Hamideh
Jamali, Mojdeh
Younesikhah, Shahrzad
Shadman, Sara
Zeinali, Razie
Zeinali, Sirous
author_facet Hosseini Nami, Amin
Kabiri, Mahboubeh
Zafarghandi Motlagh, Fatemeh
Shirzadeh, Tina
Fakhari, Negar
Karimi, Ali
Bagherian, Hamideh
Jamali, Mojdeh
Younesikhah, Shahrzad
Shadman, Sara
Zeinali, Razie
Zeinali, Sirous
author_sort Hosseini Nami, Amin
collection PubMed
description Objectives: Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mutations and their geographical distribution in Iran. Method: The mutation spectrum for 87 families from all Iranian ethnicities was collected using ARMS PCR, Sanger sequencing, and MLPA. Results: Mutations were identified in 95.8% of cases. This dataset revealed that the most frequent mutations in the Iranian population were F508del, c.1000C>T, c.1397C>G, c.1911delG, and c.1393-1G>A. In addition, we found weak evidence for Turkey being the possible geographical pathway for introducing CFTR mutations into Iran by mapping the frequency of CFTR mutations. Conclusion: Our descriptive results will facilitate the genetic detection and prenatal diagnosis of cystic fibrosis within the Iranian population.
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spelling pubmed-102345042023-06-02 Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade Hosseini Nami, Amin Kabiri, Mahboubeh Zafarghandi Motlagh, Fatemeh Shirzadeh, Tina Fakhari, Negar Karimi, Ali Bagherian, Hamideh Jamali, Mojdeh Younesikhah, Shahrzad Shadman, Sara Zeinali, Razie Zeinali, Sirous Front Genet Genetics Objectives: Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mutations and their geographical distribution in Iran. Method: The mutation spectrum for 87 families from all Iranian ethnicities was collected using ARMS PCR, Sanger sequencing, and MLPA. Results: Mutations were identified in 95.8% of cases. This dataset revealed that the most frequent mutations in the Iranian population were F508del, c.1000C>T, c.1397C>G, c.1911delG, and c.1393-1G>A. In addition, we found weak evidence for Turkey being the possible geographical pathway for introducing CFTR mutations into Iran by mapping the frequency of CFTR mutations. Conclusion: Our descriptive results will facilitate the genetic detection and prenatal diagnosis of cystic fibrosis within the Iranian population. Frontiers Media S.A. 2023-05-18 /pmc/articles/PMC10234504/ /pubmed/37274793 http://dx.doi.org/10.3389/fgene.2023.1140034 Text en Copyright © 2023 Hosseini Nami, Kabiri, Zafarghandi Motlagh, Shirzadeh, Fakhari, Karimi, Bagherian, Jamali, Younesikhah, Shadman, Zeinali and Zeinali. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Hosseini Nami, Amin
Kabiri, Mahboubeh
Zafarghandi Motlagh, Fatemeh
Shirzadeh, Tina
Fakhari, Negar
Karimi, Ali
Bagherian, Hamideh
Jamali, Mojdeh
Younesikhah, Shahrzad
Shadman, Sara
Zeinali, Razie
Zeinali, Sirous
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title_full Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title_fullStr Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title_full_unstemmed Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title_short Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
title_sort genetic attributes of iranian cystic fibrosis patients: the diagnostic efficiency of cftr mutations in over a decade
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234504/
https://www.ncbi.nlm.nih.gov/pubmed/37274793
http://dx.doi.org/10.3389/fgene.2023.1140034
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