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Genetic mutations of Cystic Fibrosis disease in North West in Iran based on Registry Center of Cystic Fibrosis

Mandana Rafeey ; Morteza Jabarpoor-Bonyadi ; Vahedi Amir ; Leila Vahedi

Majallah-i pizishkī-i Dānishgāh-i ʻUlūm-i Pizishkī va Khadamāt-i Bihdāshtī-i Darmānī-i Tabrīz, 2018-10-01, Vol.40 (4), p.31-37

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Title:
Genetic mutations of Cystic Fibrosis disease in North West in Iran based on Registry Center of Cystic Fibrosis
Author: Mandana Rafeey ; Morteza Jabarpoor-Bonyadi ; Vahedi Amir ; Leila Vahedi
Subjects: Cystic fibrosis ; Genetics ; Mutation
Is Part Of: Majallah-i pizishkī-i Dānishgāh-i ʻUlūm-i Pizishkī va Khadamāt-i Bihdāshtī-i Darmānī-i Tabrīz, 2018-10-01, Vol.40 (4), p.31-37
Description: Background: Cystic Fibrosis is an authosomal resessive disease with the involment of multi-system. The aim of this study was to investigate the genetic mutations in the cystic fibrosis disease in North West of Iran. Methods: This cross-sectional study was conducted on patients with cystic fibrosis from 2001 to 2015 in Tabriz University of Medical Sciences based on Registry Center of Cystic Fibrosis. Studied variables were the history of consanguineous marriage of parents and genetic mutations. Results: Of 263 cases, 162 cases (61.6%) had positve consanguineous marriage and 101 (38.4%) cases had negative consanguineous marriage. A total of 438 mutant alleles and 32 kinds of mutation were found that more types were disease-causing mutations. The highest frequency related to Δ F508 38 (31/5 %). Conclusion: It is necessary to design educationalprograms for prevention of consanguineous marriages, regarding to the high rate of consanguineous marriage in this region and the impact on the genetic diseases. Planning for the diagnosis and screening cystic fibrosis can be also useful.
Publisher: Tabriz: Tabriz University of Medical Sciences
Language: Persian
Identifier: ISSN: 1608-5671
EISSN: 2008-160X

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Genetic mutations of Cystic Fibrosis disease in North West in Iran based on Registry Center of Cystic Fibrosis

Mandana Rafeey ; Morteza Jabarpoor-Bonyadi ; Vahedi Amir ; Leila Vahedi

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