Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province.
- VernacularTitle:江苏地区高苯丙氨酸血症患儿苯丙氨酸羟化酶基因突变谱和新突变研究
- Author:
Jing-jing ZHANG
1
,
2
;
Yun SUN
;
Yi-jun SUN
;
Mei-lian HUANG
;
Jin ZHANG
;
Xiao-wei LIANG
;
Tao JIANG
;
Zheng-feng XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; China; Exons; Female; Humans; Infant, Newborn; Introns; Male; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; enzymology; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2013;30(5):513-517
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia from Jiangsu province by DNA sequencing, and to analyze the spectrum of PAH gene mutations.
METHODSA total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing.
RESULTSForty five types of mutations were identified, which included 4 novel mutations (L37P, H107R, Q267L, S391T). A total of 125 mutations were identified in 140 alleles (89.3%). All mutations were detected in exons 2-3, 5-7, 9-12 and introns 2, 4, 7 and 8. Most mutations were found in exons 6, 7 and 12. EX6-96A > G, R243Q and R241C were the most common mutations.
CONCLUSIONThe mutational spectrum of Jiangsu province seems to be different from other regions. The spectrum can offer reliable information for genetic diagnosis of patients with hyperphenylalaninemia.
