Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province.
- Author:
Xinhua TANG
1
;
Hong CHEN
;
Yinhong ZHANG
;
Li LI
;
Hongying MI
;
Qingua XU
;
Baosheng ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; China; Female; Humans; Male; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; enzymology; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(2):153-157
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutations of phenylalanine hydroxylase (PAH) gene in 20 phenylketonuria (PKU) patients from Yunnan.
METHODSThe 13 exons and the splicing regions of 12 introns of the PAH gene were sequenced to detect mutations in 20 unrelated PKU patients.
RESULTSPAH gene sequencing has revealed 15 types of mutations, in which the most frequently mutation was p.R243Q (30.0%), followed by p.Y356X(10.0%), p.R111X (7.5%), IVS4+2T>A (7.5%) and p.V399V (7.5%). Exons 7, 11, 3 and introns 4, 11 were most frequently involved. Six novel mutations, including c.59A>C, c.60G>C, c.690_691insG, c.1119_1120insT, c.441+2T>A, c.842+4A>T and c.1200+1T>G were detected.
CONCLUSIONPAH gene mutations identified in Yunnan are more similar to those of northern China, with R243R being the most common, though there are still certain characteristics for the type and frequency of mutations.
