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From the DNA Learning Center at Cold Spring Harbor Laboratory Definitions provided by the National Institutes of Health
(Definitions of words describing genetic disorders and birth defects.)
Click on a letter to jump to a disorder beginning with that letter
A Quick TUTORIAL
How to Translate Medical Terms into Understandable English
There are simple words, called root words, that describe simple objects or processes. To describe something more complex, another root word is often added in front of it (a prefix) or following it (a suffix). To decypher or translate a term into plain English, it must first be broken down into individual Latin words. This can be done with the section on "Prefixes, Suffixes, and Root Words" found on above site.
Huntington's Disease Glossary
Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Base: A small molecule inside the larger molecule of DNA. Bases - A, C, G, and T - are arranged in line in a DNA molecule (e.g. CGGTACAGG) and encode instructions for making proteins.
CAG: Triplet codon that codes for glutamine. The number of CAG repeats is
higher in the IT-15 gene of people with Huntington.
Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.
Codon: Three letters of bases in a gene that encode the type of amino acid to be placed in the protein. For example, the codon G-T-G signifies the amino
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.
Dominant: A genetic trait or disorder is dominant when only one copy of the
mutated gene is necessary for the trait to develop. A recessive trait or disorder develops when two copies of the mutated gene are inherited.
Enzyme: Protein that helps other chemical reactions in the body proceed.
Exon: A section of a gene that contains the instructions for making a protein.
Gel: Hard Jello-like substance that scientists use to measure the size of DNA
fragments during DNA diagnostic tests.
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 (e.g., males have a XY genotype, females have a XX).
Glutamine: One of 20 amino acids. People with Huntington have more glutamines in the huntingtin protein because of the increased number of CAG repeats.
Guanine: One of the four bases that make up DNA. Abbreviated with a 'G'.
Huntingtin: The protein made by the IT-15 gene. People with Huntington have a huntingtin protein with more glutamines.
Intron: A section of a gene that does not contain any instructions for making a protein. Introns separate exons -- the coding sections -- from each other.
Mutation: A change in the genetic code (the A's, C's, G's and T's) of a gene.
PCR/Polymerase chain reaction: A method to increase or amplify specific sections of DNA. This method can be used to detect changes in genes that cause genetic disorders.
Primer: A small DNA molecule used to perform PCR.
Protein: A type of molecule produced by the body. The instructions for producing proteins reside in the genes.
Punnett square: A method of showing the potential offspring of two parents.
Recessive: Refers to genetic disorders in which a person must have two copies of the mutated gene to develop the disorder.
Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.