2017—2023年新疆阿勒泰地区新生儿高苯丙氨酸血症筛查情况及基因突变分析  

Analysis of neonatal hyperphenylalaninemia screening and gene mutations in Altay Prefecture,Xinjiang from 2017 to 2023

作　　者：郝鹏锴 任窈窕 韩沫 徐月 郑春玲 滕晓宇[1] 朱颖杰 HAO Pengkai;REN Yaotiao;HAN Mo;XU Yue;ZHENG Chunling;TENG Xiaoyu;ZHU Yingjie(Department of Children’s Health,Jilin Women and Children Health Hospital,Jilin Provincial Obstetrics Quality Control Center,Jilin Province,Changchun 130000,China;Department of Children’s Rehabilitation,Altay Prefecture Maternal and Child Health Hospital,Xinjiang Uygur Autonomous Region,Altay 836500,China;Jilin Provincial Institute of Population and Life Sciences Technology(Jilin Provincial Reproductive Health Hospital),Jilin Province,Changchun 130000,China)

机构地区：[1]吉林省妇幼保健院(吉林省产科质量控制中心)儿童保健科,吉林长春130000 [2]新疆阿勒泰地区妇幼保健院儿童康复科,新疆阿勒泰836500 [3]吉林省人口生命科学技术研究院(吉林省生殖保健医院),吉林长春130000

出　　处：《妇儿健康导刊》2025年第3期38-41,共4页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：目的分析2017—2023年新疆阿勒泰地区新生儿高苯丙氨酸血症(HPA)筛查情况及基因突变情况。方法选取新疆阿勒泰地区2017年1月1日至2023年6月30日于有接产资格的12个助产机构出生并参加HPA筛查的34159例新生儿为研究对象。采用时间分辨免疫荧光分析法进行新生儿HPA筛查,应用串联质谱技术、尿蝶呤谱分析、血二氢蝶啶还原酶活性测定和二代高通量基因测序技术进行诊断和鉴别诊断。结果在34159例新生儿中,确诊HPA 6例,其中轻度HPA 4例,轻度苯丙酮尿症2例,HPA平均发病率为1∶5693。4例确诊新生儿经过基因测序技术确认基因异常位点,突变位置主要为7号外显子(37.5%),突变类型主要为错义突变(87.5%);PAH基因突变4例,无BH4基因突变;复合杂合PAH基因突变4例,无纯合PAH基因突变。结论新疆阿勒泰地区2017—2023年新生儿HPA平均发病率为1∶5693,HPA新生儿PAH基因突变位置主要为7号外显子,复合杂合PAH基因突变较为多见。Objective To analyze the neonatal hyperphenylalaninemia(HPA)screening and gene mutations in Altay Prefecture,Xinjiang from 2017 to 2023.Methods A total of 34159 newborns who were born in 12 qualified midwifery institutions in Altay Prefecture,Xinjiang from January 1,2017 to June 30,2023 and participated in HPA screening were selected as the study samples.Time resolved immunofluorescence analysis was used for neonatal HPA screening,and tandem mass spectrometry,urinary pterin spectrum analysis,blood dihydropteridine reductase activity measurement,and second-generation high-throughput gene sequencing technology were used for diagnosis and differential diagnosis.Results Among 34159 newborns,6 cases were diagnosed with HPA,including 4 cases of mild HPA and 2 cases of mild phenylketonuria.The average incidence rate of HPA was 1∶5693.The abnormal gene sites were confirmed by gene sequencing technology in 4 cases, the mutation location was mainly exon 7 (37.5%), and the mutation type was mainly missense mutation (87.5%). PAH gene mutation was found in 4 cases, and BH4 gene mutation was not found. There were 4 cases of complex heterozygous PAH gene mutation and no homozygous PAH gene mutation. Conclusion The average incidence rate of H PA in newborns in Altay, Prefecture Xinjiang from 2017 to 2023 is 1∶5693. Exon 7 is the main mutation location of PAH gene in HPA newborns, and complex heterozygous PAH gene mutations are more common.

关 键 词：新生儿 高苯丙氨酸血症 基因突变 

分 类 号：R394[医药卫生—医学遗传学]