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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.

Authors :
Guldberg P
Henriksen KF
Güttler F
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.

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