知搜-全球专利检索

  1. 登录
  2. 注册
发明公开
CN106591273A 一组与先天性代谢缺陷病相关的基因新突变及检测试剂盒 有权

一组与先天性代谢缺陷病相关的基因新突变及检测试剂盒
摘要：
本发明公开了一组与先天性代谢缺陷病相关的基因新突变及检测试剂盒。本发明所提供的先天性代谢缺陷病相关基因新突变得到的产品为：D1)MUT基因发生c.1874A>C杂合突变得到的蛋白质，为发生p.Asp625Ala突变得到的蛋白质；D2)MUT基因发生c.470T>A杂合的到的蛋白质，为发生p.Val157Asp突变得到的蛋白质；D3)编码MUT基因c.1874A>C杂合突变蛋白质的DNA分子或cDNA分子；D4)编码MUT基因c.470T>A突变蛋白质的DNA分子或cDNA分子；本发明的与先天性代谢缺陷病相关的两个新发突变对开展先天性代谢缺陷病的分子诊断具有重要意义。
摘要（英）：

The invention discloses gene new mutations relevant to IEM (Inborn Errors of Metabolism) and a detection kit. Products obtained through the gene new mutations relevant to the IEM provided by the invention are D1, protein obtained by generating c.1874A>C heterozygous mutation on an MUT gene (protein obtained after the p.Asp625Ala mutation); D2, protein obtained by generating c.470T>A heterozygosison the MUT gene (protein obtained after the p.Val157Asp mutation); D3, a DNA (Deoxyribonucleic Acid) molecule or a cDNA (Complementary Deoxyribonucleic Acid) molecule for coding the MUT gene c.1874A>C heterozygous mutation protein; and D4, a DNA molecule or a cDNA molecule for coding the MUT gene c.470T>A mutation protein. The two new mutations relevant to the IEM provided by the invention have important significance on the development of the molecular diagnosis of the IEM.

公开/授权文献
0/0