[Six novel mutations in PAH gene detected by sequencing].
OBJECTIVE
To explore new mutation in phenylalanine hydroxylase (PAH) gene.


METHODS
The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.


RESULTS
Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.


CONCLUSIONS
M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene.
Department of Anatomy, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China. zhizhang@gzsums.edu.cn
Zhi
Z
Zhang
Yun-shao
YS
He
Shu-xin
SX
Peng
Fang-hua
FH
Wang
Jian-hui
JH
Jiang
Ren-jing
RJ
Jing
Gang
G
Cheng
Jie
J
Xu
D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D010651:Phenylalanine Hydroxylase