烟台市新生儿苯丙酮尿症的筛查及基因突变分析  

Screening and Gene Mutation Analysis of Neonatal Phenylketonuria in Yantai City

作　　者：吕志萍[1] 赵善娜[1] 王芳[1] 刘春丽[1] 于传亭[1] Lyu Zhi-ping;Zhao Shan-na;Wang Fang;Liu Chun-li;Yu Chuan-ting(Department of Laboratory Medicine,Yantaishan Hospital,Yantai 264008,Shandong Province,China)

机构地区：[1]烟台市烟台山医院检验科,山东烟台264008

出　　处：《中外医药研究》2022年第2期126-128,共3页JOURNAL OF CHINESE AND FOREIGN MEDICINE AND PHARMACY RESEARCH

摘　　要：目的:分析细菌抑制法、荧光法、串联质谱法对烟台市新生儿苯丙酮尿症筛查的结果,并对阳性患儿的基因突变情况进行分析。方法:选取2005年6月-2021年6月烟台市辖区各级医院送检进行苯丙酮尿症筛查的695178例新生儿作为研究对象,筛查方法:细菌抑制法267950例,荧光免疫法424753例,串联质谱法2475例。比较3种方法的阳性确诊率。在确诊为苯丙酮尿症的阳性患儿中随机抽取40例做质谱基因分析,寻找可能的致病突变位点。结果:苯丙酮尿症筛查的3种方法中,串联质谱法阳性确诊率高于其他2种方法,差异有统计学意义(P<0.05);40例阳性患儿中,发现31个致病基因突变;80条染色体上共发现75个突变位点,基因突变检出率达93.75%。结论:串联质谱法可降低假阳性率,提高准确性。烟台市苯丙酮尿症患儿基因突变存在多样性,基因突变谱与其他地区的报告不完全相同。Objective:To analyze the results of screening for phenylketonuria in neonates in Yantai by bacterial inhibition,fluorescence and tandem mass spectrometry and analyze gene mutation status of positive children.Methods:From June 2005 to June 2021,695,178 neonates who were sent to hospitals at all levels in Yantai for phenylketonuria screening were selected as the research objects;screening method:bacterial inhibition method in 267,950 cases;424,753 cases of fluorescence immunoassay;2,475 cases of tandem mass spectrometry.The positive diagnosis rates of the three methods were compared.40 cases of positive children diagnosed with phenylketonuria were randomly selected for mass spectrometry gene analysis to find possible pathogenic mutation sites.Results:Among the three methods of phenylketonuria screening,the positive diagnosis rate of tandem mass spectrometry was higher than the other two methods,and the difference was statistically significant(P<0.05).Among the 40 positive children,31 pathogenic gene mutations were found.A total of 75 mutation sites were found on 80 chromosomes,and the detection rate of gene mutation was 93.75%.Conclusion:Tandem mass spectrometry can reduce the false positive rate and improve the accuracy.Gene mutations in children with phenylketonuria in Yantai City are diverse,and the gene mutation spectrum is not exactly the same as that reported in other regions.

关 键 词：苯丙酮尿症 基因突变 基因质谱仪 

分 类 号：R72[医药卫生—儿科]