海南省2007—2019年新生儿四氢生物蝶呤缺乏症筛查结果及基因分析  

Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019

作　　者：黄慈丹 赵振东 刘秀莲 温英梅 许海珠 朱晓妹 杨春 王洁 Huang Cidan;Zhao Zhendong;Liu Xiulian;Wen Yingmei;Haizhu Xu;Zhu Xiaomei;Yang Chun;Wang Jie(Neonatal Disease Screening Center,Hainan Women′s and Children′s Medical Center,Haikou 570206,China)

机构地区：[1]海南省妇女儿童医学中心新生儿疾病筛查中心,海口570206

出　　处：《中华医学杂志》2021年第38期3161-3163,共3页National Medical Journal of China

基　　金：海南省卫生计生行业科研项目(19A200008);海南省重大科技项目(ZDKJ2017007)。

摘　　要：收集海南省2007—2019年参加新生儿疾病筛查的干血斑样本,共1 295 516例,确诊高苯丙氨酸血症43例。其中确诊四氢生物蝶呤缺乏症8例,男女各4例。海南省新生儿人群中四氢生物蝶呤缺乏症发病率6.2/100万。其中7例检测出了6-丙酮酰四氢蝶呤合成酶(PTS)基因的6个突变位点:c.317C>T、c.286G>A、c.259C>T、c.155A>G、c.84+291A>G和c.83+1777T>G;1例检出醌型二氢生物蝶呤还原酶(QDPR)基因的c.41T>C位点纯合突变。海南省新生儿人群四氢生物蝶呤缺乏症发病率较低,且PTS基因突变所占比例最大。A total of 1295516 dried blood spots were collected from newborns in Hainan Province from 2007 to 2019 who participated in the screening of neonatal diseases,and 43 cases of hyperphenylalaninemia were diagnosed.Among the 43 cases,8 cases were confirmed to have tetrahydrobiopterin deficiency(4 males and 4 females).The incidence of tetrahydrobiopterin deficiency among newborns in Hainan Province was 6.2/1 million.Six mutations in the PTS gene were detected among 7 cases;the mutations were as follows:c.317C>T,c.286G>A,c.259C>T,c.155A>G,c.84+291A>G and c.83+1777T>G.A homozygous mutation at c.41T>C site of QDPR gene was detected in one case.Overall,it′s found that the incidence of tetrahydrobiopterin deficiency in newborn populations in Hainan Province is low,and PTS gene mutations account for the largest proportion of cases of tetrahydrobiopterin deficiency within the study population.

关 键 词：婴儿 新生 发病率 基因 四氢生物蝶呤缺乏症 

分 类 号：R722.1[医药卫生—儿科]