Folic acid demand genetic detection kit and application thereof

A detection kit and kit technology, applied in the field of genetic engineering, can solve the problems of limited detection capacity, time-consuming and labor-intensive, high environmental and personnel quality requirements, and achieve high-efficiency and low-cost effects

Inactive Publication Date: 2015-07-22
陈瑛
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

These methods either have limited detection capabilities, or are time-consuming and labor-intensive, and require expensive equipment and consumables. More importantly, in addition to gene chips, these methods are difficult to simultaneously perform high-throughput detection of multiple mutation sites in different genes
However, the gene chip technology platform is expensiv

Method used

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  • Folic acid demand genetic detection kit and application thereof
  • Folic acid demand genetic detection kit and application thereof
  • Folic acid demand genetic detection kit and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0070] Example 1: Gene detection of folic acid utilization ability in patients with congenital heart disease

[0071] 1. Test samples

[0072] The samples came from the DNA library of non-syndromic patients in the Reproductive and Genetic Center of Suzhou Municipal Hospital, and all patients in the library signed informed consent before collection.

[0073] 2. Detection scheme

[0074] See the detection method of the specific embodiment.

[0075] 3. Test results

[0076] In 160 cases of congenital heart disease samples, it was found that the distribution frequency of certain SNPs mutations in NFE2L2, DHFR, CBS, MTRR, MTR genes was significantly different from that of the normal control group, and became an independent factor affecting the onset of congenital heart disease. See Table 2.

[0077] Table 2: Distribution frequency of SNPs in genes related to folic acid metabolism in patients with congenital heart disease and normal people

[0078]

[0079]

[0080]

...

Embodiment 2

[0085] Example 2: Gene detection of folic acid utilization ability in premature infants

[0086] Among 315 preterm samples, it was found that the mutation frequency of multiple folic acid metabolism-related gene SNPs was significantly different from that of the normal control group, which became a risk factor affecting the occurrence of preterm birth. See Table 3 and Table 4.

[0087] Table 3: Distribution frequency of SNPs in preterm and term folic acid metabolism-related genes

[0088]

[0089]

[0090] Table 4: Comparison of multiple mutation genotypes between preterm and full-term infants

[0091]

[0092]

[0093] In summary, through the detection of this kit, some known common mutations that affect the metabolism and utilization of folic acid can be detected, and the sub-healthy population can be divided into three subgroups with high, medium and low disease risks, and guide these groups Individualized use of folic acid, specific individualized intervention...

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Abstract

The invention discloses a folic acid demand genetic detection kit and an application thereof. The kit comprises PCR amplification primers, extension primers, and a PCR reagent, wherein the PCR amplification primers and the extension primers are designed by taking sixteen gene mutation sites as detection objects, and the sixteen gene mutation sites specifically are as follows: a CBS gene 699 C>T site, a DHFR gene c.594+59del19 site, a GST01 gene 428 C>A site, an MTHFD gene 1958 G>A site, an MTHFR gene 1298 A>C site, an MTHFD gene 677 C>T site, an MTR gene -186 T>G site, an MTR gene 905 G>A site, an MTR gene 2756 A>G site, an MTRR gene c.56+781 A>C site, an MTRR gene 66 A>G site, an NFE2L2 gene ins1+11108 C>T site, an NOS3 gene 894 G>T site, an RFC1 gene 80 G>A site, a TCN2 gene 776 C>G and a TYMS gene 1494del6; the sequences of the PCR amplification primers and the extension primers are shown in SEQ ID No. 1 to SEQ ID No. 48; and the PCR reagent comprises polymerase and a buffer solution. The invention provides a simple, high-throughput, high-effect and low-cost folic acid utilization capacity gene mutation screening method, which is suitable for Chinese populations.

Description

technical field [0001] In particular, the invention relates to a folic acid requirement genetic detection kit and application thereof, belonging to the technical field of genetic engineering. Background technique [0002] Folic acid is an essential nutrient for the human body. Its main biological function is to participate in the methylation reaction in cells and the synthesis of deoxyribonucleic acid as a methyl donor. Folic acid cannot be directly used by the human body and must be activated through a series of activation Its physiological function, and the folic acid ingested from food can only participate in many important biochemical metabolic reactions of the human body when it is reduced to tetrahydrofolate under the action of folate reductase. Folate deficiency is one of the environmental factors leading to abnormal embryonic development. Studies have shown that folic acid deficiency in the population can lead to fetal congenital abnormalities, especially the occurre...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 陈瑛王本敬
Owner 陈瑛
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