Six novel mutations in PAH gene detected by sequencing.
- Author:
Zhi ZHANG
1
;
Yun-shao HE
;
Shu-xin PENG
;
Fang-hua WANG
;
Jian-hui JIANG
;
Ren-jing JING
;
Gang CHENG
;
Jie XU
Author Information
- Publication Type:Journal Article
- MeSH: DNA Mutational Analysis; Female; Humans; Infant; Male; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; genetics; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2004;21(4):305-308
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore new mutation in phenylalanine hydroxylase (PAH) gene.
METHODSThe PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.
RESULTSEleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.
CONCLUSIONM276K, 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.
