Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark
| Autor: | Jens Vuust, Antti Litiä, Jørgen Arends, Estrid Høgdall, Bent Nørgaard-Pedersen, Patrik Dahlen |
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| Rok vydání: | 1993 |
| Předmět: |
Newborn screening
Carrier signal business.industry medicine.disease behavioral disciplines and activities Cystic fibrosis Molecular biology δf508 mutation law.invention Immunoreactive trypsin law Pediatrics Perinatology and Child Health Screening programs Medicine business ΔF508 Polymerase chain reaction |
| Zdroj: | Screening. 2:1-11 |
| ISSN: | 0925-6164 |
| DOI: | 10.1016/0925-6164(93)90012-8 |
| Popis: | A total of 1081 newborn screening cards were anonymously selected for cystic fibrosis (CF) screening by quantitation of immunoreactive trypsin (IRT, Delfia) and by ΔF508 mutational analyses using polymerase chain reaction followed by both gel retardation test and timeresolved fluorescence hybridization assay (Delfia). The IRT values showed a log normal distribution and was significantly higher in girls than boys and in 28 carriers compared with 1052 normals. In 12 newborns corresponding to 1.02% an IRT concentration greater than 70 μg/l was found. One of these was a ΔF508 homozygote with an IRT concentration of 380 μg/l. A comparison between the two types of ΔF508 mutational analyses gave identical results (1052 normals, 28 heterozygotes, and one homozygote), i.e., a carrier frequency of 1:38.6. However, the Delfia ΔF508 assay was easier to perform and the various controls makes the assay more reliable. In future newborn CF screening programs we therefore recommend Delfia IRT followed by Delfia ΔF508 analyses for IRT values greater than 70 μg/l. |
| Databáze: | OpenAIRE |
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