Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province
10.3760/cma.j.issn.1003-9406.2019.11.001
- VernacularTitle: 苯丙酮尿症患者苯丙氨酸羟化酶基因的变异研究
- Author:
Qing LU
1
;
Yanqiu LIU
;
Bicheng YANG
;
Kang XIE
;
Yongyi ZOU
;
Wan LU
;
Feng WANG
Author Information
1. Jiangxi Maternal and Child Health Care Hospital, Nanchang, Jiangxi 330006, China
- Publication Type:Journal Article
- Keywords:
Phenylketonuria;
Phenylalanine hydroxylase;
Gene variant
- From:
Chinese Journal of Medical Genetics
2019;36(11):1057-1061
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.
Methods:The 13 exons and flanking intronic regions of the PAH gene were subjected to PCR amplification and sequencing.
Results:A total of 143 variants were detected among the 156 alleles, which included 54 types of variants, which yielded a detection rate of 91.7%. Common variants have included R243Q (26/143, 18.2%), R408Q (10/143, 7.0%), EX6-96A>G (8/143, 5.6%), IVS4-1G>A (7/143, 4.9%), R241C (7/143, 4.9%) and V399V (7/143, 4.9%). In addition, 6 novel variants were detected, which included IVS4-3T>G, Q172H, C284Y, V291L, V329del, and L430R. The variants consisted of missense, splicing, nonsense and deletion variants, which have mainly located in exons 7 (45, 31.5%), 12 (17, 11.9%), 11 (16, 11.2%) and 6 (14, 9.8%).
Conclusion:Variants of the PAH gene identified in Jiangxi province mainly involve exons 7, 12, 11 and 6, with the most common variants being R243Q and R408Q. Six novel variants were identified.
