P139H - Human MTHFR MTRR Gene Polymorphism Detection Kit
Tianlong
China
1-2 weeks
50000 Test/M
This kit is a supplementary reagent for the “Human MTHFR Gene Polymorphism Detection Kit”, which can qualitatively detect the polymorphism of human MTHFR gene locus c.1298 and human MTRR gene locus c.66. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the methionine-folate metabolism system,Together with MTRR, and maintains the normal metabolism of folic acid with methionine synthase reductase(MTRR). In addition, it is also involved in maintaining normal homocysteine levels in the body. MTHFR and MTRR gene encode the key enzymes of folate metabolism and the mutations can reduce the activity of these enzymes, cause folate metabolism disorders, low folate levels and hyperhomocysteinemia. People with abnormal MTHFR gene has low enzyme activity and folic acid metabolism disorders, which lead to a significantly increased risk of neonatal neural tube defects, Down syndrome, and cleft lip and palate. And such people need more folic acid supplements to achieve the desired effect.
Name:
Human MTHFR\MTRR Gene Polymorphism Detection Kit (PCR-Melting Curve Method)
Spec:
24T/Kit, 48T/Kit
Intended Use:
This kit is a supplementary reagent for the “Human MTHFR Gene Polymorphism Detection Kit”, which can qualitatively detect the polymorphism of human MTHFR gene locus c.1298 and human MTRR gene locus c.66. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the methionine-folate metabolism system,Together with MTRR, and maintains the normal metabolism of folic acid with methionine synthase reductase(MTRR). In addition, it is also involved in maintaining normal homocysteine levels in the body. MTHFR and MTRR gene encode the key enzymes of folate metabolism and the mutations can reduce the activity of these enzymes, cause folate metabolism disorders, low folate levels and hyperhomocysteinemia. People with abnormal MTHFR gene has low enzyme activity and folic acid metabolism disorders, which lead to a significantly increased risk of neonatal neural tube defects, Down syndrome, and cleft lip and palate. And such people need more folic acid supplements to achieve the desired effect.
Principle of Test:
This kit is based on a real-time PCR platform that combines specific primers, fluorescent probes and melting curve technology to detect MTHFR (C677T) gene polymorphism (SNP) in DNA samples. This kit combined with special PCR reaction procedures and the use of special Taq enzyme, using specific primers for high-precision PCR amplification of the target sequence. Detect SNP genetyping by analyzing and comparing the changes in the melting curve Tm generated by the binding of specific fluorescent probes to the target sequence. Homozygous type (including wild homozygous and mutant homozygous) occurs when there is only one melting peak, and heterozygous type occurs when there are two peaks simultaneously (Figure 1).
Storage Condition & Validity:
All reagents could be stored at -20ºC for 6 months, but storage or transportation at 4-10ºC in the dark for no more than 7 days. When stored at -20ºC, the number of freeze-thaw cycles should not exceed 5 times.
Applicable Instrument:
Gentier96 real time PCR system, SLAN-96P real time PCR system.
Sample Requirements:
1. The applicable sample is EDTA anticoagulated whole blood; the sample should be stored at 4-10°C for no more than 7 days and at -20°C for no more than 1 month. Avoid repeated freezing and thawing.
2. Use commercial kits to extract human genomic DNA. We recommend Qiagen’s QIAamp DNA Blood Mini Kit (Cat. No. 51104 or 51106) to extract DNA from whole blood samples. The concentration and purity of the extracted DNA need to be determined by an ultraviolet spectrophotometer.
The value of DNA OD260/OD280 should be 1.8~2.0, and the concentration should be between 10~100ng/μl. Unqualified DNA samples shall not be used for testing. It is recommended that samples below 10ng/μl be re-sampled for nucleic acid extraction, and those above 100ng/μl should be appropriately diluted to the specified concentration range. The extracted DNA is recommended to be tested immediately. Otherwise, please store it below -20ºC for no more than 6 months.
FAQ
What is the difference between Gentier96 and Gentier48 ?
1.1 Sample throughout difference: Gentier96 can process maximum 96 samples per run, Gentier48 can process maximum 48 samples per run; 1.2 Fluorescence channel difference: Gentier96 E/R has 6/4 fluorescence channels separately, Gentier48 E/R has 4/2 fluorescence channels; 1.3 Light source location difference : The light source of Gentier96 is on the top,