DiaPlexQ™ MTHFR Genotyping Kit
Real-Time PCR based assay system for the genotyping of the MTHFR gene C677T and A1298C SNP related to hyperhomocysteinemia
CE-IVD
The MTHFR gene provides instructions to make an enzyme called methylenetetrahydrofolate reductase. This enzyme is responsible for converting one form of folate (5, 10-ethylentetrahyfrofolate) into the unstable but most active folate (5-methyltetrahydrofolate or methylfolate) in every single cell of the human body. Methylfolate has two critical tasks, it helps make neurotransmitters in our brain and it allows for making a critical compound called s-adenosylmethionine (SAMe), which helps regulate more than 200 enzymes in the human body. This enzyme catalyzes the conversion of homocysteine to another amino acid, methionine. The polymorphism of the MTHFR gene generally occurs through the mutation of C677T and A1298C that reduces the functional ability of the MTHFR enzyme and causes an increase in levels of homocysteine in the blood as well as dysregulation of various important enzymes responsible to maintain the homeostasis in the body. So, MTHFR polymorphism can cause cerebrovascular disease, cardiovascular disease, peripheralvascular disease and a variety of venous thrombosis risks, cancer, depression etc. In addition, it is reported to cause birth defects, especially neural tube defects and premature birth of the fetus. So, it is important to screen the MTHFR to reduce risk factors in general and to prevent health from worsening in people who have already noticed the above mentioned diseases in their family health.
Specification
| DiaPlexQ™ MTHFR Genotyping Kit | ||
|---|---|---|
| Detection target | Mutation C677T and A1298C of MTHFR gene | |
| Registration | CE-IVD | |
| Detection technology | Real-Time PCR | |
| Specimen type | Blood | |
| Compatible instruments* | ABI 7500 / 7500 Fast Real-Time PCR System (Applied Biosystems) CFX96™ Real-Time PCR System (Bio-Rad) | |
| PCR running time | ~ 1 hr 30 min | |
Features
- HotStart PCR system : Ultra high specific and sensitive result
- UDG system : No carryover contamination ( DiaPlexQ™)
- Multiplex PCR : Multiple targets in a single reaction
- Reliable system : Automatic Internal control ( DiaPlexC™)
- Positive control included
- Easy-to-use master mix
- CE certification
Experimental
| Color | 677 site | 1298 site |
|---|---|---|
| ● Red | C/C type | A/A type |
| ● Blue | T/T type | C/C type |
| ● Green | C/T type | A/C type |
| ● Black | Non-Template Control | |
Citation&Papers
Fodinger M, Horl WH, Sunder-Plassmann G (2000). “Molecular biology of 5,10 methylenetetrahydrofolate reductase”. J Nephrol 13 (1): 20-33 | Schneider JA, Rees DC, Lui YT, Clegg JB (May 1998). “Worldwide distribution of a common methylenetetrahydrofolate reductase mutation”. Am. J. Hum. Genet, 62 (5): 1258-60 | Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuval LP et al. (May 1995). “A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase”. Nat. Genet. 10 (1): 111-3. |
Ordering information
| Technology | Cat. No. | Product | Contents |
|---|---|---|---|
Real-Time PCR | SQH31-K020 (20 reaction) | DiaPlexQ™ MTHFR Genotyping Kit | 2X Multiplex Real-Time PCR Smart mix (MTHFR) Primer & Probe Mixture (MTHFR 677) Primer & Probe Mixture (MTHFR 1298) C/C type Control DNA (MTHFR 677) C/T type Control DNA (MTHFR 677) T/T type Control DNA (MTHFR 677) A/A type Control DNA (MTHFR 1298) A/C type Control DNA (MTHFR 1298) C/C type Control DNA (MTHFR 1298) Nuclease free Water |
SQH31-K100 (100 reaction) |
