摘要
目的:探究苯丙酮尿症(PKU)患儿苯丙氨酸羟化酶(PAH)基因外显子7突变特点及其与临床的关系。方法:选取87例PKU患儿为研究对象。聚合酶链反应-单链构象多态性(PCR-SSCP)分析PAH基因外显子7突变与基因测序,分析其与经典型、中间型及轻型PKU之间的关系。结果:87例患儿检出6种PAH基因外显子7位点突变,分别为R243Q、IVS7+2T-A、R241C、G247R、L255S、G247V,其基因频率分别为18.97%、4.02%、1.72%、1.15%、1.15%、0.57%;经典型PKU患儿检出6种突变,中间型PKU检出R243Q、IVS7+2T-A、R241C等3种突变,而轻型PKU仅检出R243Q突变;应用外显子7位点突变情况预测患儿PKU表型显示,经典型、中间型及轻型PKU预测与临床诊断一致性较高,Kappa值分别为0.818、0.781、0.935。结论:PKU患儿PAH外显子7突变主要以R243Q、IVS7+2T-A为主,其基因型与PKU表型存在相关性,有助于患儿PKU表型预测。
Objective:To investigate the characteristics of mutations in exon 7 of phenylalanine hydroxylase(PAH)gene in children with phenylketonuria(PKU)and its relationship with clinical practice.Methods:87 children with PKU were selected as study subjects.Polymerase chain reaction-single-strand conformation polymorphism(PCR-SSCP)was used to select mutations in exon 7 of PAH gene for analysis and gene sequencing.The relationship between mutations and classical,intermediate,and mild PKU were analyzed.Results:A total of 6 mutations in exon 7 of PAH gene were detected in the 87 children,which were R243Q,IVS7+2T-A,R241C,G247R,L255S,and G247V.The gene frequencies were 18.97%,4.02%,1.72%,1.15%,1.15%,and 0.57%,respectively.6 mutations were detected in children with classical PKU,3 mutations(R243Q,IVS7+2T-A,R241C)were detected in children with intermediate PKU,and only R243Q mutation was detected in children with mild PKU.Using mutations in exon 7 to predict the phenotype of PKU in children with classical,intermediate and mild PKU could achieve high consistency with clinical diagnosis.The Kappa values were 0.818,0.781,and 0.935,respectively.Conclusion:Mutations in exon 7 of PAH gene in children with PKU mainly include R243Q and IVS7+2T-A,and their genotypes are significantly correlated with PKU phenotypes,which is helpful to predict PKU phenotype in children.
作者
周怡
阙敏
王新静
ZHOU Yi;QUE Min;WANG Xin-jing(Department of Neonatal Disease Screening,Anhui Women and Children's Health Center,Hefei 230061,Anhui,China)
出处
《川北医学院学报》
CAS
2021年第10期1338-1341,共4页
Journal of North Sichuan Medical College
基金
合生元婴营养与健康研究项目(2015FYH017)。
关键词
苯丙氨酸羟化酶基因
外显子7突变
聚合酶链反应-单链构象多态性
苯丙酮尿症
临床意义
Phenylalanine hydroxylase gene
Characteristics of mutations in exon 7
Polymerase chain reaction-single-strand conformation polymorphism
Phenylketonuria
Clinical significance
