A primer, probe and kit for detecting human mthfr and mtrr gene mutations

Abstract

The invention discloses a primer, a probe and a kit for detecting human MTHFR and MTRR gene mutations, belonging to the technical field of gene detection. The invention provides primers and probes SEQ ID NO: 1 to SEQ ID NO: 9 for detecting human MTHFR C677T and A1298C gene mutations and MTRR A66G gene mutations; detection of human by asymmetric PCR amplification and TaqMan probe melting curve analysis technology MTHFR C677T and A1298C gene mutations and MTRR A66G gene mutations are used to judge the individual's folic acid utilization ability. The test results combined with other clinical test results and clinical symptoms can assist in the diagnosis of clinical individualized folic acid supplementation.

Description

technical field [0001] The invention belongs to the technical field of gene detection, in particular to a primer, a probe and a kit for detecting human MTHFR and MTRR gene mutations. Background technique [0002] Folic acid, also known as vitamin B9, is a water-soluble vitamin composed of pteridine, p-aminobenzoic acid and L-glutamic acid. Folic acid is an important methyl donor in the human body, involved in DNA synthesis, replication and repair, and methylation regulation of genome and protein. Folic acid deficiency in the body is closely related to neonatal birth defects such as neural tube closure defects, and also increases the risk of cardiovascular diseases, neurodegenerative diseases, diabetes, kidney diseases, osteoporosis and other diseases. Folic acid deficiency in the body is the result of the interaction between environment and genes. The human body cannot synthesize folic acid, and external intake is the only way for the human body to obtain folic acid. There...

AI Technical Summary

Problems solved by technology

[0005] The existing detection kits for human MTHFR and MTRR gene mutations basically use the fluorescent PCR method based on the TaqMan hydrolysis probe, although compared with PCR-RELF, direct sequencing and other methods, it has the advantages of rapid detection, easy operation and low cross-contamination , but limited by the detection channel of the fluorescent PCR instrument, it can only detect a single site mutation (MTHFR C677T), cannot fully cover the relevant gene mutation sites, and cannot comprehensively evaluate the individual's folic acid utilization capacity

In addition, due to the difference of a single base, non-specific amplification curves (with non-specific Ct) are prone to appear regardless of conventional PCR or ARMS PCR. The added PCR template concentration will increase the workload of detection operation and result interpretation

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