Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses
| Autor: | Philippe Parent, M. Catheline, C. Verlingue, Marie-Pierre Audrézet, J. F. Morin, B. Le Marec, Bernard Mercier, J. P. Codet, Claude Férec, Michel Roussey, Hubert Journel, M. Dagorne, A. Lemoigne, Gilles Rault |
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| Rok vydání: | 1995 |
| Předmět: |
medicine.medical_specialty
Pancreatic disease Cystic Fibrosis Trypsinogen Population DNA Mutational Analysis Molecular Sequence Data Genetic Counseling Pilot Projects Biology medicine.disease_cause Cystic fibrosis Exon chemistry.chemical_compound Neonatal Screening Internal medicine Genetics medicine Humans Immunoreactive trypsinogen Allele education Genetics (clinical) Mutation education.field_of_study medicine.diagnostic_test Base Sequence Incidence Infant Newborn medicine.disease Molecular biology Endocrinology chemistry France |
| Zdroj: | Human genetics. 96(5) |
| ISSN: | 0340-6717 |
| Popis: | We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S). Moreover the test can be adapted to other countries in which the distribution of mutations is established. |
| Databáze: | OpenAIRE |
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