Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
We report novel mutations in exon 7 of human phenylalanine hydroxylase (PAH) gene of phenylketonuria (PKU) in southern Chinese, analysed by using PCR-DGGE (denaturing gradient gel electrophoresis), solid phase DNA sequencing and in vitro expression. One of the 2 novel mutations, IVS6nt-1, is an intron-exon junctional mutation which results a splicing defect in mRNA. Arg252Gln is another novel mutation with residual PAH activity only 24% compared to wild type in in vitro mutagenesis and expression in Cos-1 cell. Other 3 known mutations and polymorphism including Arg241Cys, Arg243Gln and Val245Val (GTG to GTA) together with these novel mutations composed the mutational profile of exon 7 in the PAH gene of PKUs in this populations.
Shanghai Institute for Pediatric Research, Shanghai Second Medical University, Shanghai 200092.
M
M
Zhang
K
K
Hsiao
T
T
Su
H
H
Chao
R
R
Chen
X
X
Gu
D005091:Exons; D006801:Humans; D010375:Pedigree; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics; D017354:Point Mutation