| 苯丙酮尿症患儿PAH基因Exon 7单链构型多态性分析 |
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| 引用本文： | 姚野崎,金慧敏,松原洋一,成泽邦明. 苯丙酮尿症患儿PAH基因Exon 7单链构型多态性分析[J]. 吉林大学学报(医学版), 1993, 0(5) |
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| 作者姓名： | 姚野崎 金慧敏 松原洋一 成泽邦明 |
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| 作者单位： | 白求恩医科大学第二临床学院儿童卫生教研室(姚野崎)，白求恩医科大学第一临床学院儿科(金慧敏)，日本东北大学医学部病态代谢教室(松原洋一)，日本东北大学医学部病态代谢教室(成泽邦明) |
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| 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。
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| 关 键 词： | 苯丙酮尿症/诊断 基因,结构 DNA 多聚酶链反应 电泳,聚丙酰凝胶 |
Single strand conformation polymorphism analysis of Exon 7 of PAN gene from Chinese PKU patients |
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| Yao Yeqi,et al. Single strand conformation polymorphism analysis of Exon 7 of PAN gene from Chinese PKU patients[J]. Journal of Jilin University: Med Ed, 1993, 0(5) |
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| Authors: | Yao Yeqi et al |
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| Affiliation: | Dept. of Pediatrics |
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| 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. |
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| Keywords: | phenylketonuria/DI genes structural DNA polymerase chain reaction electrophoresis polyacrylamide gel |
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