Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Carrier: A person that carries a gene that causes a disorder, but does not show symptoms.
Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.
Cytosine: One of the four bases that make up DNA. Abbreviated with a 'C'.
DNA: Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.
Full mutation: A mutation in the FMR1 gene with 200 or more CGG repeats.
FMRP: A protein involved in the maturation of neurons in the brain. People with Fragile X lack this protein.
Gene: A portion of DNA that contains instructions for making a protein.
Genotype: The genetic composition of a person. Usually used when considering one gene or chromosome (eg males have a XY genotype, females have a XX).
Guanine: One of the four bases that make up DNA. Abbreviated with a 'G'.
Methyl group: A small molecule that turns off the FMR1 gene in people with Fragile X.
Mutation: A change in the sequence of a gene.
PCR test: A genetic test used to detect pre-mutations in a person's DNA.
Punnett square: A method of showing the potential offspring of two parents.
Sex chromosome: Chromosomes (X and Y) that determine an individual's gender.
Southern blot test: A genetic test that detects full mutations in a person's DNA.
Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.
Transmitting male: With reference to Fragile X, a transmitting male has a pre-mutation that he has passed to his daughter.
X-inactivation: A process in female mammals in which one of the two X chromosomes is "turned off."
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