MTHFR Genotyping Kit 

Real-Time PCR (or Multiplex allele-specific PCR) based assay system for the genotyping

of the MTHFR gene C677T and A1298C SNP related to hyperhomocysteinemia

Genetic information

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. 

Product Specification

* Please inquire us for compatible instrument information before use.  

Product 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

Reference

1. Fodinger M, Horl WH, Sunder-Plassmann G (2000). “Molecular biology of 5,10 methylenetetrahydrofolate reductase”.

J Nephrol 13 (1): 20-33

2. 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

3. 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.

Result & Data interpretation

DiaPlexQ™ MTHFR Genotyping Kit

DiaPlexC™ MTHFR Genotyping Kit

SM : Standard Marker CT : Control Template

1298Con : 1298 Control 677Con : 677 Control

Fig. 1. Allelic Discrimination Plot information (ABI7500 FAST)

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

Lane

Interpretation

(detection)

Lane

Interpretation

(detection)

1

677CC, 1298AA

(Normal)

6 677TT, 1298AC

2 677CC, 1298CC 7 677CT, 1298AA

3 677CC, 1298AC 8 677CT, 1298CC

4 677TT, 1298AA 9 677CT, 1298AC

5 677TT, 1298CC 10

Required

re-experiment

SM CT 1 2 3 4 5 6 7 8 9 10

1298Con

677Con

677T

1298A

1298C

677C

Ordering Information

Technology

Real-Time PCR

Conventional

(End-point) PCR

Cat. No.

SQH31-K020

(20 reaction)

SQH31-K100

(100 reaction)

SHG31-K020

(20 reaction)

SHG31-K100

(100 reaction)

Product

DiaPlexQ™

MTHFR Genotyping Kit

DiaPlexC™

MTHFR Genotyping Kit

Contents

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

2X Multiplex PCR Smart mix (MTHFR)

Primer Mixture (MTHFR)

Standard Marker (MTHFR)

Control Template (MTHFR)

Nuclease free Water