Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

C J van der Sijs-Bos; C M Diepstraten; J A Juyn; M Plaisier; J C Giltay; F J van Spronsen; G P Smit; R Berger; J A Smeitink; B T Poll-The; J K Ploos van Amstel

doi:10.1159/000154351

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351.

Authors

C J van der Sijs-Bos¹, C M Diepstraten, J A Juyn, M Plaisier, J C Giltay, F J van Spronsen, G P Smit, R Berger, J A Smeitink, B T Poll-The, J K Ploos van Amstel

Affiliation

¹ Clinical Genetics Center Utrecht, The Netherlands.

PMID: 8807319
DOI: 10.1159/000154351

Abstract

Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenylalaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel.

MeSH terms

Amino Acid Metabolism, Inborn Errors / blood
Amino Acid Metabolism, Inborn Errors / enzymology
Amino Acid Metabolism, Inborn Errors / genetics
DNA Mutational Analysis
Exons / genetics
Genetic Heterogeneity
Genotype
Humans
Mutation*
Netherlands
Phenylalanine / blood
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / blood
Phenylketonurias / enzymology*
Phenylketonurias / genetics
Polymorphism, Single-Stranded Conformational*

Substances

Phenylalanine
Phenylalanine Hydroxylase