Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province.
- Author:
You-sheng YAN
1
;
Zheng WANG
;
Sheng-ju HAO
;
Yan MENG
;
Lei ZHENG
;
Shang-zhi HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; China; Exons; Female; Humans; Infant; Introns; Male; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; enzymology; genetics
- From: Chinese Journal of Medical Genetics 2009;26(4):419-422
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province.
METHODSMutations 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.
RESULTSMutations 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%).
CONCLUSIONThe 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.
