Analysis of phenylalanine hydroxylase gene mutations in Han ethnic children with phenylketonuria of Xinjiang region
10.13602/j.cnki.jcls.2018.02.04
- VernacularTitle:新疆地区汉族苯丙酮尿症患儿苯丙氨酸羟化酶基因突变分析
- Author:
Jiang HE
1
;
Xiaokang GAO
;
HongYun ZOU
Author Information
1. 新疆军区总医院临床医学研究所
- Keywords:
phenylketonuria;
phenylalanine hydroxylase;
gene mutation;
Han ethnic
- From:
Chinese Journal of Clinical Laboratory Science
2018;36(2):94-98
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the characteristics of phenylalanine hydroxylase (PAH) gene mutations in Han ethnic children with phenylketonuria of Xinjiang region.Methods The mutations in the promoter,exons 1-13 and flanking introns of PAH genes from 71 Han ethnic PKU children and their parents of Xinjiang region were detected by PCR,DNA sequencing and high-throughput targeted sequencing,and the obtained results were compared with those from other four provinces in northwest of China,Japan and Europe.Re suits A total of 37 kinds of mutations,including missense mutation,splice site mutation,nonsense mutation,deletion mutation and frameshift mutation,were detected in 90.1％ (128/142) of PAH alleles from 71 Han ethnic PKU children of Xinjiang region.Most mutations existed in exons 7,6,3,12,2 and 11 and intron 4 of PAH gene.The most common missense mutations were R243Q (21.8％) and R53H (7.7％).The most common splicing sites were EX6-96A ＞ G(6.3％),IVS4-1G ＞ A(4.9％) and V399V (4.2％).Moreover,The most common nonsense mutations were R111X(4.9％) and Y356X(4.9％).The detection rate of R53H mutation (7.7％) in Han ethnic PKU children of Xinjiang region was significantly higher than that in other 4 provinces of northwest of China,and a novel PAH gene nutation P225S(c.673C ＞ T) was found.Conclusion The mutation spectrum of PAH gene in Han ethnic PKU children of Xinjiang region is similar to that in other 4 provinces of northwest of China,but significantly different from that of Japanese and European population,which displays a distinct and conservative characteristic.
