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Product Name DiaPlexQ™ MTHFR Genotyping Kit (Hyperhomocysteinemia)
Model
Series Molecular Diagnostic (Human Gentrifyping)
Catalog
Product Description

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 targetMutation C677T and A1298C of MTHFR gene
RegistrationCE-IVD
Detection technologyReal-Time PCR
Specimen typeBlood
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


Color677 site1298 site
RedC/C typeA/A type
BlueT/T typeC/C type
GreenC/T typeA/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

TechnologyCat. No.ProductContents




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)





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