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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
- Source :
-
BMC medical genetics [BMC Med Genet] 2004 Apr 14; Vol. 5, pp. 8. Date of Electronic Publication: 2004 Apr 14. - Publication Year :
- 2004
-
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.<br />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.<br />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).<br />Conclusion: Using this approach, we were able to increase our standard power rate of mutation detection of about 11% (77% vs. 88%).
- Subjects :
- 5' Untranslated Regions genetics
Child
Cohort Studies
Cystic Fibrosis Transmembrane Conductance Regulator genetics
DNA blood
DNA genetics
Exons genetics
Genetic Testing methods
Humans
Introns genetics
Italy
Leukocytes chemistry
Mutation, Missense genetics
Nucleic Acid Denaturation
Polymorphism, Genetic genetics
Sequence Deletion genetics
Chromatography, High Pressure Liquid methods
Cystic Fibrosis genetics
DNA Mutational Analysis methods
DNA Mutational Analysis trends
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1471-2350
- Volume :
- 5
- Database :
- MEDLINE
- Journal :
- BMC medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 15084222
- Full Text :
- https://doi.org/10.1186/1471-2350-5-8