Folic acid demand genetic detection kit and application thereof

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...

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 expensive, has high requirements on the environment and personnel quality, and is difficult to popularize in the vast medical institutions in my country. Therefore, it is necessary to establish a high-throughput, high-efficiency, and low-cost screening method for gene mutations in folic acid metabolism-related enzymes. , to achieve clinical rapid detection and large-scale screening

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