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Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
- Source :
-
Genomics [Genomics] 1993 Jul; Vol. 17 (1), pp. 141-6. - Publication Year :
- 1993
-
Abstract
- We present the results of a comprehensive study on the molecular basis of phenylketonuria (PKU) in Denmark. A strategy relying on PCR in combination with denaturing gradient gel electrophoresis for analyzing the coding sequence and splice site junctions of the phenylalanine hydroxylase gene allowed us to detect a molecular defect on 99% of 308 Danish PKU chromosomes. The mutational spectrum consists of 35 different mutations, including 23 missense mutations, 5 splice mutations, 4 nonsense mutations, and 3 deletions. Seventeen of these mutations have not been reported previously. The mutation detection assay presented in this report offers a simple and reliable methodological entity that can be applied to rapid diagnosis and carrier detection of phenylketonuria in any population, irrespective of the frequency and distribution of mutations.
- Subjects :
- Alleles
Base Sequence
Databases, Factual
Denmark epidemiology
Gene Frequency
Haplotypes genetics
Humans
Infant, Newborn
Molecular Sequence Data
Neonatal Screening
Nucleic Acid Denaturation
Phenylketonurias epidemiology
Phenylketonurias ethnology
Point Mutation
Sequence Deletion
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Phenylalanine Hydroxylase genetics
Phenylketonurias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0888-7543
- Volume :
- 17
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Genomics
- Publication Type :
- Academic Journal
- Accession number :
- 8406445
- Full Text :
- https://doi.org/10.1006/geno.1993.1295