Folate Gene Polymorphisms and Cellular Folate Speciation Pilot Study

2014-08-27 03:19:24 | BioPortfolio


This pilot study is designed to investigate differences in folate-related genes (single nucleotide polymorphisms) and their relationship to the species of folate present on red blood cells.


The main questions to be addressed in this pilot study are:

1. what is the type of folate in red blood cells in individuals with different methylterahydrofolate reductase (MTHFR) genotypes

2. what is the relationship between other folate metabolism-related gene single nucleotide polymorphisms and type (species) of folate found in red blood cells

3. what is the relationship between folate and other B vitamin status, genotype and folate species

4. is there a relationship between serum ferritin status and folate metabolism

Whole blood will be taken from apparently healthy male and female volunteers, aged 18-65, which will be used to determine genotype for various folate metabolism-related genes. Furthermore, the type of folate present on the red blood cells will be assessed, and folate, vitamin B12, riboflavin and serum ferritin status determined.

Study Design



Single Nucleotide Polymorphism


Institute of Food Research
United Kingdom


Active, not recruiting


Institute of Food Research

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:19:24-0400

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Medical and Biotech [MESH] Definitions

The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.

Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

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