| Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns. | |
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MedLine Citation:
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PMID: 10229049 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Newborns with cystic fibrosis (CF) have increased blood immunoreactive trypsinogen concentrations. When screening for CF in the newborn by immunoreactive trypsinogen measurement, an abnormally high proportion of healthy deltaF508 carriers is found among false-positive neonates, suggesting that a relationship could exist between immunoreactive trypsinogen concentration at birth and the genetic status. Therefore, this study analysed the possible relationships between neonatal blood immunoreactive trypsinogen concentrations and genotype in 1842 healthy newborns and 111 CF patients detected by a neonatal screening programme. A close correlation was found between immunoreactive trypsinogen and deltaF508: the probability of a healthy newborn being a carrier of this mutation increased regularly with the neonatal immunoreactive trypsinogen concentration. In CF patients, there was a significant difference between deltaF508 homozygotes and deltaF508/X (X = other mutation) compound heterozygotes with respect to the mean neonatal blood immunoreactive trypsinogen concentration. CF neonates with two mutations affecting the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator protein had significantly higher mean immunoreactive trypsinogen concentrations than patients with one mutation affecting a membrane-spanning domain. The data strongly suggest that the neonatal immunoreactive trypsinogen concentration is, in part, genetically determined, with a wide range of variations, similar to the features which have been shown for the relations between the genotype and clinical phenotypes of CF patients. |
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Authors:
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I Lecoq; J Brouard; D Laroche; C Férec; G Travert |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 88 ISSN: 0803-5253 ISO Abbreviation: Acta Paediatr. Publication Date: 1999 Mar |
Date Detail:
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Created Date: 1999-06-16 Completed Date: 1999-06-16 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: NORWAY |
Other Details:
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Languages: eng Pagination: 338-41 Citation Subset: IM |
Affiliation:
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Services de Biophysique, CHU, Caen, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Case-Control Studies Cystic Fibrosis / blood*, genetics*, immunology Cystic Fibrosis Transmembrane Conductance Regulator / genetics DNA Mutational Analysis Gene Frequency Genetic Variation Genotype Heterozygote Heterozygote Detection Homozygote Humans Mutation / genetics Neonatal Screening Phenotype Polymerase Chain Reaction Trypsinogen / blood* |
| Chemical | |
Reg. No./Substance:
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0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator; 9002-08-8/Trypsinogen |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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