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 |
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| المؤلفون: | Stefano Gambardella, Anna Maria Nardone, Maria Rosaria D'Apice, Giuseppe Novelli, Federica Sangiuolo, Silvia Russo, Mario Bengala, Vincenzina Lucidi |
| المصدر: | BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004) BMC Medical Genetics |
| بيانات النشر: | BMC, 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Nucleic Acid Denaturation, Cystic fibrosis, Male infertility, Cohort Studies, Exon, Leukocytes, Missense mutation, Genetics(clinical), CFTR mutation screening, Polymorphism, Genetic, Exons, Humans, Child, Mutation, Missense, Chromatography, High Pressure Liquid, Italy, Genetic Testing, Cystic Fibrosis, DNA, Introns, Mutation, 5' Untranslated Regions, Sequence Deletion, Genetics (clinical), Genetics, education.field_of_study, Chromatography, Technical Advance, High Pressure Liquid, Allelic heterogeneity, lcsh:Internal medicine, lcsh:QH426-470, Genetic counseling, Population, Biology, Genetic, DHPLC, medicine, Polymorphism, education, lcsh:RC31-1245, medicine.disease, Human genetics, lcsh:Genetics, Settore MED/03 - Genetica Medica, Missense |
| الوصف: | 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%). |
| اللغة: | English |
| تدمد: | 1471-2350 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648949dbdfe2b4e277a7068dd796e98bTest http://www.biomedcentral.com/1471-2350/5/8Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....648949dbdfe2b4e277a7068dd796e98b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712350 |
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