Mutation of Exons 10,11 and 12 of Phenylalanine Hydroxylase Gene in Uygur Children with Classic Phenylketonuria in Xinjiang
10.11969/j.issn.1673-548X.2025.05.008
- VernacularTitle:新疆维吾尔族经典苯丙酮尿症患儿苯丙氨酸羟化酶基因第10、11、12外显子突变研究
- Author:
Huiqin WANG
1
;
Long LI
;
Jinfeng HE
Author Information
1. 830001 乌鲁木齐,新疆维吾尔自治区人民医院科研教育中心、精准医学中心
- Publication Type:Journal Article
- Keywords:
Phenylalanine hydroxylase;
Phenylketonuria;
Mutation
- From:
Journal of Medical Research
2025;54(5):34-39
- CountryChina
- Language:Chinese
-
Abstract:
Objective To understand the detection rate of children with phenylketonuria(PKU)in southern Xinjiang in recent 10 years,and analyze the mutation of phenylalanine hydroxylase(PAH)gene in children with classical PKU in southern Xinjiang,so as to provide effective reference for clinical treatment.Methods The concentration of phenylalanine(PHE)in dried filter paper blood was de-tected by chemical fluorescence method for PKU screening of live births in southern Xinjiang.The heel blood or venous blood of 29 Uygur PKU children diagnosed in southern Xinjiang were collected.The exons 10,11,12 of PAH gene and the intron junction region of Uygur PKU children were sequenced by polymerase chain reaction(PCR)product direct sequencing method to determine the mutation site.Results A total of 5gene mutation types and 13mutation sites were detected in 58 chromosomes,and the mutation detection rate was 44.83％(13/29).The five mutations were divided into two mutation sites of ivs10-1(c.1066-11g＞a)in the junction region be-tween exon 10 and intron,and four P L3851(c.1155g＞c)mutation site,4 exon 12 P R413p(c.1238g＞c)mutation site,1 exon 12 P T418p(c.1252a＞c)mutation site,two ivs12+1(c.1315+1g＞a)mutation sites in exon 12;Two site mutations were detected in 2 of 29 children.Conclusion The detection rate of PKU in southern Xinjiang in recent 10 years was retrospectively analyzed.The mutation types and characteristics of exons 10,11 and 12 of PAH gene and the intron junction region of PAH gene in Xinjiang Uygur children with phenylketonuria were clarified,which laid the foundation for further study of phenylketonuria in Uygur families.
