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Method for detecting mutation site of folate metabolism related gene

A technology of folic acid metabolism and detection method, which is applied in the field of biomedicine and can solve problems such as the precise determination of mutation sites

Inactive Publication Date: 2019-07-09
杭州云鼎基因生物科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, it is difficult to accurately determine the mutation site by unidirectional single base extension

Method used

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  • Method for detecting mutation site of folate metabolism related gene
  • Method for detecting mutation site of folate metabolism related gene

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Embodiment Construction

[0019] The present invention will be further described in detail below in conjunction with the embodiments, so that those skilled in the art can implement it with reference to the description.

[0020] It should be understood that terms such as "having", "comprising" and "including" used herein do not exclude the presence or addition of one or more other elements or combinations thereof.

[0021] A method for detecting mutation sites of folic acid metabolism-related genes of the present invention comprises the following steps:

[0022] 1) Extract sample DNA

[0023] 1. Centrifuge the sample in the centrifuge tube at 10,000rpm for 2min, remove the supernatant, and save the precipitate for later use.

[0024] 2. Add 350 μl of Buffer MC (MCL buffer solution) L and 20 μl of Proteinase K (Proteinase K) to the above centrifuge tube, shake and mix, put in a water bath at 65°C for 20 minutes, and mix occasionally.

[0025] 3. After the water bath is completed, add 350 μl Buffer MA a...

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Abstract

The invention belongs to the field of biomedicine, solves the problem that one-way single base extension accurately determines a mutation site difficultly, and discloses a method for detecting a mutation site of a folate metabolism related gene. A target fragment is obtained through a single-tube multiplex PCR amplification reaction of a designed target site specific primer, then the target fragment is bidirectionally extended by using a single base extension technology to obtain a to-be-detected gene site, and finally a target DNA sequence is accurately determined through the nucleic acid mass spectrum analysis of the to-be-detected gene site, wherein the single base extension technology involves that a single base extension primer is adopted for bidirectionally extending the target fragment. The invention aims to perform mutation detection on the folate metabolism related gene by the bidirectional single base extension technology, thereby providing safety guidance for individual clinical medication.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a method for detecting mutation sites of genes related to folic acid metabolism. Background technique [0002] Genomic studies have shown that the absorption effect of folic acid in the body is closely related to the phenotype of the MCM6 gene. Therefore, detecting the variation of related genes can effectively help people to eat rationally and ensure nutritional balance. [0003] At present, the relevant nucleic acid mass spectrometry detection technologies on the market are all carried out by unidirectional single base extension technology. However, it is difficult to accurately determine the mutation site by unidirectional single-base extension. [0004] The invention aims to check the variation of folic acid metabolism-related genes through bidirectional single-base extension technology, so as to provide safety guidance for individual clinical medication. Contents of the invent...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/106
Inventor 张立波张宇
Owner 杭州云鼎基因生物科技有限公司
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