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苯丙氨酸羟化酶基因新突变A165D、Q301X和R413G的检测鉴定

舒剑波1,孟英韬1,党利亨1,宋力2   

  1. 1. 天津市儿童医院
    2. 天津市儿童医院儿研所
  • 收稿日期:2010-10-29 修回日期:2011-02-15 出版日期:2011-10-15 发布日期:2011-10-15
  • 通讯作者: 舒剑波

Identification of three new mutations (A165D, Q301X and R413G) of phenylalanine hydroxylase gene

  • Received:2010-10-29 Revised:2011-02-15 Published:2011-10-15 Online:2011-10-15

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摘要： 目的：通过对正常人群的检测，鉴定苯丙氨酸羟化酶基因的三种突变A165D、Q301X和R413G为新发突变。方法：设计错配引物，盐析法提取基因组DNA，同时对突变检出者及100例正常对照者进行PCR扩增、限制性内切酶消化和琼脂糖凝胶电泳进行分析比较。结果： 除含突变的病人外正常对照组未检出这三种突变的等位基因。结论：A165D、Q301X和R413G为苯丙氨酸羟化酶基因的新发突变，为下一步研究突变位点对酶活性的影响奠定了基础。

关键词: 苯丙酮尿症, 苯丙氨酸羟化酶, 突变

Abstract: 【Abstract】Objective： To identify the three new mutations(A165D,Q301X and R413G) of phenylalanine hydroxylase gene by detection of the normal population. Methods： We designed the mismatch primers and extracted the genomic DNA by slating-out method, detected the patients with the mutations and 100 normal controls by using the polymerase chain reaction and the restriction enzyme digestion. Compared the results by agarose gel electrophoresis. Results： The control group was not detected the three mutant alleles except the patients. Conclusion： A165D, Q301X and R413G were three new mutations of phenylalanine hydroxylase gene, which lay the foundation for further investigation of the impact of enzymatic activity.

Key words: phenylalanine hydroxylase, phenylketonuria, mutation