Evaluation of CFTR gene mutations in Adana
ABSTRACT Objective: Cystic fibrosis is the most common autosomal recessive inherited disorder seen in the white populations. It develops in result of mutations of cystic fibrosis transmembrane regulator (CFTR) gene. Rate of these mutations vary in different geographical regions. In this study, we ai...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Cukurova University
2013-04-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=25643 |
| _version_ | 1797907495521353728 |
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| author | Ozlem Goruroglu Ozturk Filiz Kibar Esin Damla Ziyanoglu Karacor Salih Cetiner Gulhan Sahin Akgun Yaman |
| author_facet | Ozlem Goruroglu Ozturk Filiz Kibar Esin Damla Ziyanoglu Karacor Salih Cetiner Gulhan Sahin Akgun Yaman |
| author_sort | Ozlem Goruroglu Ozturk |
| collection | DOAJ |
| description | ABSTRACT Objective: Cystic fibrosis is the most common autosomal recessive inherited disorder seen in the white populations. It develops in result of mutations of cystic fibrosis transmembrane regulator (CFTR) gene. Rate of these mutations vary in different geographical regions. In this study, we aimed to determine the frequency of CFTR gene mutations in Adana. Methods: DNA samples of 63 subjects (21 women, 42 men) who were diagnosed as cystic fibrosis at Balcali Hospital of Cukurova University, were studied for 19 different CFTR mutations by the strip assay method which is based on reverse hybridization. Results: In cystic fibrosis diagnosed patients, 19 mutations were observed of which 9 were homozygous and 10 were heterozygous. ∆F508 frequency was found as 11.9%, and rate of homozygous was found as 66.7%. Mutation frequencies of W1282X and N1303K were found as 2.40% and 4.80% respectively and rate of homozygous mutations were 50% for both. I148T mutation frequency was found as 3.20% and all were heterozygous. For the whole 19 mutations, frequency of mutation in 63 subjects was 22.3%. Conclusion: Detection of CFTR gene mutations by the strip assay method by reverse hybridization is an easy, fast and informative method. However, due to improvability of the common mutations in probable cystic fibrosis patients because of heterogenity in this region, it is still a major problem and does not exclude cystic fibrosis diagnosis. But this problematic issue can be overcome by evaluating the whole exons of CFTR mutations by advanced molecular tecniques. Key words: CFTR, cystic fibrosis, molecular diagnosis, reverse hibridisation [Cukurova Med J 2013; 38(2.000): 202-208] |
| first_indexed | 2024-04-10T10:37:41Z |
| format | Article |
| id | doaj.art-6134d500cdc942ebab688f5451914bb2 |
| institution | Directory Open Access Journal |
| issn | 0250-5150 |
| language | English |
| last_indexed | 2024-04-10T10:37:41Z |
| publishDate | 2013-04-01 |
| publisher | Cukurova University |
| record_format | Article |
| series | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| spelling | doaj.art-6134d500cdc942ebab688f5451914bb22023-02-15T16:20:46ZengCukurova UniversityÇukurova Üniversitesi Tıp Fakültesi Dergisi0250-51502013-04-0138220220810.5455/cutf.25643Evaluation of CFTR gene mutations in AdanaOzlem Goruroglu OzturkFiliz KibarEsin Damla Ziyanoglu KaracorSalih CetinerGulhan SahinAkgun YamanABSTRACT Objective: Cystic fibrosis is the most common autosomal recessive inherited disorder seen in the white populations. It develops in result of mutations of cystic fibrosis transmembrane regulator (CFTR) gene. Rate of these mutations vary in different geographical regions. In this study, we aimed to determine the frequency of CFTR gene mutations in Adana. Methods: DNA samples of 63 subjects (21 women, 42 men) who were diagnosed as cystic fibrosis at Balcali Hospital of Cukurova University, were studied for 19 different CFTR mutations by the strip assay method which is based on reverse hybridization. Results: In cystic fibrosis diagnosed patients, 19 mutations were observed of which 9 were homozygous and 10 were heterozygous. ∆F508 frequency was found as 11.9%, and rate of homozygous was found as 66.7%. Mutation frequencies of W1282X and N1303K were found as 2.40% and 4.80% respectively and rate of homozygous mutations were 50% for both. I148T mutation frequency was found as 3.20% and all were heterozygous. For the whole 19 mutations, frequency of mutation in 63 subjects was 22.3%. Conclusion: Detection of CFTR gene mutations by the strip assay method by reverse hybridization is an easy, fast and informative method. However, due to improvability of the common mutations in probable cystic fibrosis patients because of heterogenity in this region, it is still a major problem and does not exclude cystic fibrosis diagnosis. But this problematic issue can be overcome by evaluating the whole exons of CFTR mutations by advanced molecular tecniques. Key words: CFTR, cystic fibrosis, molecular diagnosis, reverse hibridisation [Cukurova Med J 2013; 38(2.000): 202-208]http://www.scopemed.org/fulltextpdf.php?mno=25643Key words: CFTRcystic fibrosismolecular diagnosisreverse hibridisation |
| spellingShingle | Ozlem Goruroglu Ozturk Filiz Kibar Esin Damla Ziyanoglu Karacor Salih Cetiner Gulhan Sahin Akgun Yaman Evaluation of CFTR gene mutations in Adana Çukurova Üniversitesi Tıp Fakültesi Dergisi Key words: CFTR cystic fibrosis molecular diagnosis reverse hibridisation |
| title | Evaluation of CFTR gene mutations in Adana |
| title_full | Evaluation of CFTR gene mutations in Adana |
| title_fullStr | Evaluation of CFTR gene mutations in Adana |
| title_full_unstemmed | Evaluation of CFTR gene mutations in Adana |
| title_short | Evaluation of CFTR gene mutations in Adana |
| title_sort | evaluation of cftr gene mutations in adana |
| topic | Key words: CFTR cystic fibrosis molecular diagnosis reverse hibridisation |
| url | http://www.scopemed.org/fulltextpdf.php?mno=25643 |
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