دورية أكاديمية
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
| العنوان: | Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy |
|---|---|
| المؤلفون: | Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe |
| المصدر: | BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004) |
| بيانات النشر: | BMC, 2004. |
| سنة النشر: | 2004 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Cystic fibrosis, CFTR mutation screening, DHPLC, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male infertility and elevated sweat concentrations. The CFTR gene has numerous mutations (>1000) and functionally important polymorphisms (>200). Early identification is important to provide appropriate therapeutic interventions, prognostic and genetic counselling and to ensure access to specialised medical services. However, molecular diagnosis by direct mutation screening has proved difficult in certain ethnic groups due to allelic heterogeneity and variable frequency of causative mutations. Methods We applied a gene scanning approach using DHPLC system for analysing specifically all CFTR exons and characterise sequence variations in a subgroup of CF Italian patients from the Lazio region (Central Italy) characterised by an extensive allelic heterogeneity. Results We have identified a total of 36 different mutations representing 88% of the CF chromosomes. Among these are two novel CFTR mutations, including one missense (H199R) and one microdeletion (4167delCTAAGCC). Conclusion Using this approach, we were able to increase our standard power rate of mutation detection of about 11% (77% vs. 88%). |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2350 |
| العلاقة: | http://www.biomedcentral.com/1471-2350/5/8Test; https://doaj.org/toc/1471-2350Test |
| DOI: | 10.1186/1471-2350-5-8 |
| الوصول الحر: | https://doaj.org/article/0fb26338a14448cda963101e178b319eTest |
| رقم الانضمام: | edsdoj.0fb26338a14448cda963101e178b319e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14712350 |
|---|---|
| DOI: | 10.1186/1471-2350-5-8 |