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      Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran

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          Abstract

          Objective

          Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common cystic fibrosis transmembrane conductance regulator (CFTR) mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran.

          Methods

          Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province (in Iran) were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method.

          Findings

          Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles.

          Conclusion

          These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.

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          The phenotypic consequences of CFTR mutations.

          Ann Harris, R Rowntree (2003)
          Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype and CF disease phenotype; however, this relationship is still not well understood. A connection between CFTR genotype and disease manifested in the pancreas has been well described, but pulmonary disease appears to be highly variable even between individuals with the same genotype. This review describes the current classification of CFTR mutation classes and resulting CF disease phenotypes. Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
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            Thalassemia in Iran: epidemiology, prevention, and management.

            A Ehsani, Sirous Zeinali, M Rahiminejad … (2007)
            To determine the prevalence and geographic distribution of thalassemia and to evaluate the success of the thalassemia prevention and treatment programs in Iran. Data were obtained from the National Thalassemia Registry of Iran, Iranian Blood Transfusion Organization, genetic laboratories involved in prenatal diagnosis, related pharmaceutical companies, and centers performing bone marrow transplantation for thalassemic patients. A total of 13,879 living patients have been registered, mostly from the northern and southern parts of Iran with the median age of 15 years. Twenty-three percent of patients were older than 20 years. The number of newly diagnosed cases has been decreased considerably after the start of the prevention program. Since the introduction of prenatal diagnosis, 2819 couples (2549 fetuses) have been tested, with only 6 false results. Elective abortion was not performed in 10 affected fetuses. Most common mutations detected were IVS II-1 and IVS I-5. In 2003, approximately 25% of the national blood products and 6 million vials of desferal were used for thalassemic patients. Overall, 340 patients have received allogeneic bone marrow transplantation, of those 46 patients deceased. Bloodborne infections have also been decreased significantly owing to the national screening of blood products for bloodborne viral infections. Owing to the national prevention program and provided special care, the age distribution of thalassemic patients in Iran is getting adapted to a full prevention and treatment program and life expectancy of these patients has been increased considerably. This shift in the age distribution of thalassemia, a traditionally considered pediatric disease, will face us with new challenges and the health care system should be prepared for this new face of thalassemia.
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              Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

              Reza Alibakhshi, Roya Kianishirazi, Jean-Jacques Cassiman … (2008)
              Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 mutations identified in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Mutations in the CFTR gene may be also causative for CBAVD (Congenital Bilateral Absence of the Vas Deferens). The type and distribution of mutations varies widely between different countries and/or ethnic groups, and is relatively unknown in Iran. We therefore performed a comprehensive analysis of the CFTR gene in Iranian CF patients. 69 Iranian CF patients, and 1 CBAVD patient, were analysed for mutations in the complete coding region, and its exon/intron junctions, of their CFTR genes, using different methods, such as ARMS (amplification refractory mutation system)-PCR, SSCP (single stranded conformation polymorphism) analysis, restriction enzyme digestion analysis, direct sequencing, and MLPA (Multiplex Ligation-mediated Probe Amplification). CFTR mutation analysis revealed the identification of 37 mutations in 69 Iranian CF patients. Overall, 81.9% (113/138) CFTR genes derived from Iranian CF patients could be characterized for a disease-causing mutation. The CBAVD patient was found to be homozygous for the p.W1145R mutation. The most common mutations were p.F508del (DeltaF508) (18.1%), c.2183_2184delAAinsG (2183AA>G) (6.5%), p.S466X (5.8%), p.N1303K (4.3%), c.2789+5G>A (4.3%), p.G542X (3.6%), c.3120+1G>A (3.6%), p.R334W (2.9%) and c.3130delA (2.9%). These 9 types of mutant CFTR genes totaled for 52% of all CFTR genes derived from the 69 Iranian CF patients. Eight mutations, c.406-8T>C, p.A566D, c.2576delA, c.2752-1_2756delGGTGGCinsTTG, p.T1036I, p.W1145R, c.3850-24G>A, c.1342-?_1524+?del, were found for the first time in this study. We identified 37 CFTR mutations in 69 well characterized Iranian CF patients, obtaining a CFTR mutation detection rate of 81.9%, the highest detection rate obtained in the Iranian population so far. These findings will assist in genetic counseling, prenatal diagnosis and future screening of CF in Iran.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Iran J Pediatr
                Journal ID (iso-abbrev): Iran J Pediatr
                Journal ID (publisher-id): IJPD
                Title: Iranian Journal of Pediatrics
                Publisher: Tehran University of Medical Sciences
                ISSN (Print): 2008-2142
                ISSN (Electronic): 2008-2150
                Publication date (Print): March 2011
                Volume: 21
                Issue: 1
                Pages: 51-57
                Affiliations
                [1 ]Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran
                [2 ]Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran
                Author notes
                [* ] Corresponding Author: Address: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran. E-mail: halehakhavan@ 123456yahoo.com
                Article
                Publisher ID: IJPD-21-051
                PMC ID: 3446107
                PubMed ID: 23056764
                SO-VID: ed89e8b9-9938-47bc-b0df-969cee9b3480
                Copyright © © 2011 Iranian Journal of Pediatrics & Tehran University of Medical Sciences
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.

                History
                Date received : 01 June 2010
                Date revision received : 29 October 2010
                Date accepted : 13 November 2010
                Categories
                Subject: Original Article

                ScienceOpen disciplines: Pediatrics
                Keywords: cystic fibrosis,children,deltaf508-cftr,cftr,genotype,iran
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: cystic fibrosis, children, deltaf508-cftr, cftr, genotype, iran

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