[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
OBJECTIVE
To characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province.


METHODS
Mutations of the PAH gene were detected in exons 3, 5, 6, 7, 11 and 12 with flaking introns of PAH gene by PCR and DNA sequencing.


RESULTS
Mutations were identified in 45/58 alleles (detection rate: 96.4%), in total of 18 variants. Among them IVS12+5G>C was a novel mutation. The most frequent mutations were R243Q (22.7%), V399V (12.1%), EX6-96A>G (5.2%), R413P (5.2%) and IVS4-1G>A (5.2%), followed by Y356X (3.4%), R111X (3.4%) and INS7+2T>A (3.4%).


CONCLUSIONS
The mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Gansu province were similar to that in other areas of China, with obvious difference in mutation rate of some mutations.
Yan
You-sheng
YS
Department of Medical Genetics, Chinese Academy of Medical Sciences & Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Prenatal Diagnosis Centre, Peking Union Medical College Hospital, Beijing, 100005 P.R. China.
Wang
Zheng
Z
Hao
Sheng-ju
SJ
Meng
Yan
Y
Zheng
Lei
L
Huang
Shang-zhi
SZ
D000328:Adult; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics
D010651:Phenylalanine Hydroxylase