1.Six novel mutations in PAH gene detected by sequencing.
Zhi ZHANG ; Yun-shao HE ; Shu-xin PENG ; Fang-hua WANG ; Jian-hui JIANG ; Ren-jing JING ; Gang CHENG ; Jie XU
Chinese Journal of Medical Genetics 2004;21(4):305-308
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.
DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational
Result Analysis
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