【摘要】 目的探讨中国PKU患者PAH基因突变特征。方法运用PCR-SSCP及PCR-DNA直接测序检测40例经典型PKU患者和30例正常对照的PAH基因。结果在PAH基因上8个外显子共发现11种突变和3种多态,其中R243Q和Y204C为两个高频突变位点,突变率分别为27.5%和10%,280 insT、M276K、M276R、IVS10nt+32T→A、IVS4nt+46C→T、H290R是首次发现的新突变。结论中国PKU患者基因外显子突变是以两个突变热点和罕见突变并存为特征。更多还原

【Abstract】 Objective: To explore the characteration of the mutation in all exons of phenylalanine hydroxylase(PAH) gene.Methods: The PAH genes resulting from 40 PKU patients and 30 normal controls were screened by PCR-single strand conformation polymorphism(SSCP) and further sequencing.Results: 11 different mutations and 3 polymorphisms have been found,in which R243Q and Y204C are two more frequent mutation spots and mutation rate reach 27.5% and 10%,respectively.In additional,280insT,M276K,M276R,IVS10nt+32T→A,IVS4nt+46C→T,H290R are also novel mutations.Conclusion: The characteration of Chinese PKU gene mutation is that two mutation hotspots and large number of relatively rare mutations are existed at the same time.更多还原