Breadcrumb
Glossary of Terms and Abbreviations
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AA:
See amino acid
AD:
See autosomal dominant
Allele:
An alternate form of a gene at a given locus or location in the genome. Each locus has two alleles, one inherited from each parent.
Affected:
An individual diagnosed with a disease or disorder of who shows signs or symptoms of a condition.
Allelic heterogeneity:
Variant alleles found at a single locus which can result in the same phenotype.
Amino Acid (AA):
One of 20 molecules made by instructions contained in DNA. These molecules are linked together to form proteins.
Anticipation:
An earlier age of onset and/or greater severity of disease with subsequent generations in a family seen with certain genetic disorders, notably the trinucleotide repeat disorders.
AR:
See autosomal recessive
Association:
A statistical relationship between two variables. Most commonly an allele found more or less frequently with a specific disease than in the general population.
Autonomy:
The right to make decisions about oneself.
Autosome:
A chromosome that is not a sex chromosome. Humans have 22 pairs of autosomes.
Autosomal:
Inheritance of a gene on an autosome. A disease caused by a gene not on a sex chromosome has autosomal inheritance.
Autosomal dominant (AD):
A disease caused by a gene not on a sex chromosome. The phenotype/disease/trait is expressed by individuals who have one copy of the gene variant. Individuals with an autosomal dominant condition have a 50% chance of passing the gene variant to offspring with each pregnancy.
Autosomal recessive (AR):
A disease caused by a gene not on a sex chromosome. The phenotype/disease/trait is expressed by individuals who have inherited two genetic variants at the same locus or gene. Most often one changed copy of the gene is inherited from each parent.