Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province.
- VernacularTitle:山东省临沂地区苯丙酮尿症患儿苯丙氨酸羟化酶基因突变的特点
- Author:
Huafeng LI
1
,
2
;
Yongli LI
;
Li ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Child; Child, Preschool; China; Exons; Female; Humans; Infant; Male; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; enzymology; genetics
- From: Chinese Journal of Medical Genetics 2017;34(3):361-364
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the characteristics of (PAH) gene mutations among patients with phenylketonuria (PKU) from Linyi area of Shandong Province.
METHODSFor 51 children affected with PKU and their parents, the 13 exons and their flanking intronic sequences of the PAH gene were directly sequenced with Sanger method.
RESULTSPAH gene mutations were detected in all of the 102 alleles of the patients, which included 31 types of mutations. Common mutations included R243Q (17/102, 16.67%), IVS4-1G to A (9/102, 8.82%), R241C (8/102, 7.84%), R111X (8/102, 7.84%), and V399V (8/102, 7.84%). In addition, two novel mutations, D101N, 345-347del, have been detected. The 31 types of mutations included missense, nonsense, deletion, and splicing mutations, which were mainly located in exons 7 (29, 28.43%), 11 (18, 17.65%), 3 (16, 15.69%) and 12 (13, 12.75%).
CONCLUSIONMutations of the PAH gene in Linyi region mainly distributed in exons 7, 11, and 3, and the most common mutation were R243Q. Two novel mutations, D101N and 345-347del, have been detected.
