DHPLC mutation analysis of phenylketonuria

Saskia Bräutigam; Annegret Kujat; Peter Kirst; Joerg Seidel; H Umit Lüleyap; Ursula G Froster

doi:10.1016/s1096-7192(02)00228-7

DHPLC mutation analysis of phenylketonuria

Mol Genet Metab. 2003 Mar;78(3):205-10. doi: 10.1016/s1096-7192(02)00228-7.

Authors

Saskia Bräutigam¹, Annegret Kujat, Peter Kirst, Joerg Seidel, H Umit Lüleyap, Ursula G Froster

Affiliation

¹ Institute of Human Genetics, University of Leipzig, Philipp-Rosenthal-Strasse 55, D-04103 Leipzig, Germany.

PMID: 12649065
DOI: 10.1016/s1096-7192(02)00228-7

Abstract

Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast method for the detection of mutations which has been successfully used for mutation screening in several disease-related genes. Phenylketonuria (PKU, OMIM* 261600; McKusick 1986) is one of the most common autosomal recessive disorders in Europe. Mutations in the PAH gene mainly involve point mutations. In this study we report the successful use of DHPLC to analyse rapidly the complete coding sequence of the PAH gene in a total of 125 unrelated patients with PKU.

MeSH terms

Base Sequence
Chromatography, High Pressure Liquid / methods*
DNA Mutational Analysis / methods*
Humans
Nucleic Acid Denaturation
Phenylketonurias / genetics*
Point Mutation / genetics*
Ureohydrolases / genetics*

Substances

Ureohydrolases
proclavaminate amidino hydrolase

Associated data

OMIM/261600