【摘要】 应用非放射性的微型非变性聚丙烯凝胶电泳,对苯丙酮尿症病人的PAH基因Ex-on 7的PCR扩增产物进行了单链构型多态性分析。结果发现,在被检标本中存在四种不同的电泳迁徙率。DNA顺序分析证明,它们分别与 Exon 7片段中不同的碱基改变相对应。这说明突变碱基种类的不同,所引起的单股核苷酸链构型变化也有差异,结果导致不同的泳动速度,据此可对PKU做出基因诊断。更多还原

【Abstract】 We applied PCR- single strand conformation polymorphism (SSCP) technique to Ex-on 7 of PAN gene from PKU patients on non-denaturing micro-polyacrylamide gel. Four different mobility patterns were shown. DNA sequencing analysis demonstrated that they represented different base changes in Exon 7 fragments, respectively. As any base change in DNA fragment may result in the change of single-stranded DNA conformation, the reality may be revealed in the form of mobility shift of single-stranded DNA. It is possible to diagnose PKU mutation already known and also to locate new mutation in PAH gene.更多还原