Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
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.
van der Sijs-Bos
C J
CJ
Clinical Genetics Center Utrecht, The Netherlands.
Diepstraten
C M
CM
Juyn
J A
JA
Plaisier
M
M
Giltay
J C
JC
van Spronsen
F J
FJ
Smit
G P
GP
Berger
R
R
Smeitink
J A
JA
Poll-The
B T
BT
Ploos van Amstel
J K
JK
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D009154:Mutation; D009426:Netherlands; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase