MTHFR- instructions for making an enzyme called Methylenetetrahydrofolate Reductase. This gene is located in the first chromosome. The MTHFR nucleotide at position 677 in the gene has two possibilities: C (Cytosine) or T (Thymine). Individuals with 2 copies of 677C (677CC) have the MOST common genotype. 677TT individuals (homozygous) have lower MTHFR activity than CC or CT (heterozygous) individuals. This occurs when there is a malfunction in the Methylenetetrahydrofolate.
Type of Inheritance: Autosomal
Type of Mutation: Substitution
Type of Inheritance: Autosomal
Type of Mutation: Substitution
MTHFR mutations are actually quite common, and researchers suspect there are at least 30 different types, these are just a few.
- MTHFR C677C = normal MTHFR gene
- MTHFR C677T = heterozygous mutation (one mutation)
- MTHFR T677T = homozygous mutation (two mutations)
- MTHFR A1298A = normal MTHFR gene
- MTHFR A1298C = heterozygous mutation (one mutation)
- MTHFR C1298C = homozygous mutation (two mutations)
- MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation
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