[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.
Zhang
Zhi
Z
Department of Anatomy, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China. zhizhang@gzsums.edu.cn
He
Yun-shao
YS
Peng
Shu-xin
SX
Wang
Fang-hua
FH
Jiang
Jian-hui
JH
Jing
Ren-jing
RJ
Cheng
Gang
G
Xu
Jie
J
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