Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. Seventy Iranian cyst...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2006-03-01
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| Series: | Iranian Journal of Allergy, Asthma and Immunology |
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| Online Access: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/125 |
| _version_ | 1811268051862028288 |
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| author | Reza Alibakhshi Mahdi Zamani |
| author_facet | Reza Alibakhshi Mahdi Zamani |
| author_sort | Reza Alibakhshi Mahdi Zamani |
| collection | DOAJ |
| description | Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. Seventy Iranian cystic fibrosis patients were screened for the CFTR gene mutation using ARMS/PCR (amplification refractory mutation system) for the following mutations: ∆F508, N1303K, G542X, 1717-1G>A, R553X, W1282X, G551D, 621+1G>T, ∆I507 and R560T. Single strand conformation polymorphism (SSCP) analysis of exons 3, 7, 10, 11 and 17b, including both the exon/intron junctions, of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes. As a result of this screening, only three mutations were found: ∆F508 mutation was found in 25 (17.8%) alleles, N1303K in six (4.3%) alleles and G542X in five (3.6%) alleles. Thus, a total of 3 mutations cover 25.7% of CF alleles. These finding will be used for planning future screening and appropriate genetic counseling programs in Iranian CF patients. |
| first_indexed | 2024-04-12T21:13:46Z |
| format | Article |
| id | doaj.art-6d4f6211ba3e412c9d2bc75d06cf39c3 |
| institution | Directory Open Access Journal |
| issn | 1735-1502 1735-5249 |
| language | English |
| last_indexed | 2024-04-12T21:13:46Z |
| publishDate | 2006-03-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Allergy, Asthma and Immunology |
| spelling | doaj.art-6d4f6211ba3e412c9d2bc75d06cf39c32022-12-22T03:16:30ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492006-03-0151125Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients Reza Alibakhshi Mahdi Zamani0 Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. Seventy Iranian cystic fibrosis patients were screened for the CFTR gene mutation using ARMS/PCR (amplification refractory mutation system) for the following mutations: ∆F508, N1303K, G542X, 1717-1G>A, R553X, W1282X, G551D, 621+1G>T, ∆I507 and R560T. Single strand conformation polymorphism (SSCP) analysis of exons 3, 7, 10, 11 and 17b, including both the exon/intron junctions, of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes. As a result of this screening, only three mutations were found: ∆F508 mutation was found in 25 (17.8%) alleles, N1303K in six (4.3%) alleles and G542X in five (3.6%) alleles. Thus, a total of 3 mutations cover 25.7% of CF alleles. These finding will be used for planning future screening and appropriate genetic counseling programs in Iranian CF patients.https://ijaai.tums.ac.ir/index.php/ijaai/article/view/125Cystic fibrosis transmembrane conductance regulatorMutationsSingle-stranded conformational polymorphism |
| spellingShingle | Reza Alibakhshi Mahdi Zamani Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients Iranian Journal of Allergy, Asthma and Immunology Cystic fibrosis transmembrane conductance regulator Mutations Single-stranded conformational polymorphism |
| title | Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients |
| title_full | Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients |
| title_fullStr | Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients |
| title_full_unstemmed | Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients |
| title_short | Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients |
| title_sort | mutation analysis of cftr gene in 70 iranian cystic fibrosis patients |
| topic | Cystic fibrosis transmembrane conductance regulator Mutations Single-stranded conformational polymorphism |
| url | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/125 |
| work_keys_str_mv | AT rezaalibakhshimahdizamani mutationanalysisofcftrgenein70iraniancysticfibrosispatients |