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Kit for detecting disease-causing genic mutation of neural tube defect of neonatus and application thereof

A neural tube defect and disease-causing gene technology, applied in the biological field, can solve problems such as reduced enzyme activity and achieve the effect of reducing the incidence of disease

Inactive Publication Date: 2011-09-14
XINBAXIANG SHANGHAI MOLECULAR MEDICAL TECH SHANGHAI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

MTRR 66A→G polymorphism, resulting in replacement of methionine with isoleucine, resulting in reduced enzyme activity

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0029] A kit for detecting mutations in neonatal neural tube defects-causing genes for one person, including the following components:

[0030] (1) Specific primer pairs and specific fluorescent assays for detecting polymorphic genotypes of rs1801133 and rs1801131 SNPs on the MTHFR gene

[0031] Optical probe pairs, 1 OD each for each primer and probe;

[0032] (2) A pair of specific primers and a pair of specific fluorescent probes for detecting the genotype of the SNP polymorphism of rs1801394 on the MTRR gene, 1 OD for each primer and probe;

[0033] (3) Fluorescent quantitative PCR reaction reagent: 3 μl 10X fluorescent quantitative PCR reaction buffer, 0.3 μl 25 mM dNTP mixture, 1.8 μl 25 mM MgCl2 solution, 0.075 μl (5 units / μl) Taq DNA polymerase, 15.975 μl deionized water.

[0034] This kit is stored at -20°C, and repeated freezing and thawing should be avoided as much as possible.

Embodiment 2

[0036] The steps to use the kit for detecting the mutation of the neonatal neural tube defect-causing gene for one person include:

[0037] (1) extract the genomic DNA of the sample;

[0038] (2) Fluorescent quantitative PCR reaction:

[0039] Use the detection kit to carry out 3 independent fluorescent quantitative PCR reactions. The total volume of each reaction is 10 μl, including 2 μl of DNA template with a concentration of 20 ng / μl, 1 μl of 10X fluorescent quantitative PCR reaction buffer, and 0.1 μl of 25 mM dNTP mixture. solution, 0.6μl 25mM MgCl 2 solution, 0.025 μl (5 units / μl) Taq DNA polymerase, 0.225 μl each of 20 μM sense primer and antisense primer, 0.25 μl each of 10 μM fluorescent probe with VIC and fluorescent probe with FAM, and 5.325 μl of deionized water.

[0040] The reaction was carried out on a PCR amplification instrument, and the reaction conditions were 50° C. for 2 minutes, 95° C. for 10 minutes, and 60 cycles of 95° C. for 30 seconds and 60° C. fo...

Embodiment 3

[0045] The service of testing the genetic susceptibility of neonatal neural tube defects of pregnant women by using the kit for detecting mutations in neonatal neural tube defects pathogenic genes

[0046] (1) The pregnant woman under inspection is instructed by the laboratory physician of the hospital to use the oral sampling swab to sample the oral epithelial cells, and use the silica gel adsorption method to extract the DNA of the oral epithelial cells;

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PUM

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Abstract

The invention discloses a kit for detecting whether mutation occurs at a relevant single nucleotide polymorphism (SNP) locus on a disease-causing gene of a neural tube defect of a neonatus. The kit mainly comprises a specific primer pair and a specific fluorescent probe pair which are used for detecting a No.rs1801133 SNP locus polymorphism genotype and a No.rs1801131 SNP locus polymorphism genotype on a methylenetetrahydrofolate reductase (MTHFR) gene and a No.rs1801394 SNP locus polymorphism genotype on a methionine synthase reductase (MTRR) gene, and the conventional fluorescent quantitative PCR reaction reagent. The kit is used for detecting a mutant of the disease-causing gene of the neural tube defect of the neonatus, can be used for quickly and conveniently searching a carrier with the disease-causing gene, can be applied to antenatal diagnosis and timely treatment, and reduces the morbidity of the neutral tube defect of the neonatus so as to fulfill the aims of promoting good prenatal and postnatal care.

Description

technical field [0001] The invention belongs to the field of biological technology, and in particular relates to a kit for detecting whether a mutation occurs in a neonatal neural tube defect-causing gene. Background technique [0002] Folic acid is an important nutrient needed by the body. It is a water-soluble B vitamin and is rich in green leafy vegetables, fruits and animal liver. Folic acid works in the human body in the form of tetrahydrofolate. Tetrahydrofolate is a carrier of one-carbon units, which can carry one-carbon units such as methyl, methylene, and formaldehyde, and participate in the synthesis of amino acids, purines, and pyrimidines in the body. Therefore, folic acid is an indispensable nutrient for cell division and proliferation, tissue repair and body development. [0003] For pregnant women, folic acid supplementation is especially important. The first 4 weeks of pregnancy is an important period for the differentiation and formation of the fetal neura...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68G01N21/64
Inventor 王贻锘
Owner XINBAXIANG SHANGHAI MOLECULAR MEDICAL TECH SHANGHAI
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