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Genetics

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Genetics

Allele frequency

Biology; Genetics

The proportion of chromosomes in a population harboring a specific allele. "Minor allele frequency" typically refers to the less common variant at a biallelic locus and is usually used to refer to ...

Allelic heterogeneity

Biology; Genetics

Common occurrence of multiple mutations in one gene that all result in the same disease or syndrome. As an example, more than 1500 mutations in the cystic fibrosis transmembrane conductance regulator ...

Aneuploidy

Biology; Genetics

Aneuploidy can affect the entire somatic cell population, as in trisomy 21, or it can affect a subset of cells, as in a tumor.

Anticipation

Biology; Genetics

A phenomenon whereby the symptoms of a genetically-based condition appear at an earlier age, or with greater severity, in successive generations. Expansion of short tandem or trinucleotide repeats is ...

Association

Biology; Genetics

A tendency for two characteristics to occur together at non-random frequencies. Note that this is a statistical correlation and does not by itself imply causation.

Autosome

Biology; Genetics

A chromosome other than X or Y. The human genome has 44 autosomes (22 pairs).

Autosomal

Biology; Genetics

A gene is autosomal if it is located on an autosome (ie, not a sex chromosome). A gene's inheritance pattern is also referred to as autosomal if the pattern corresponds to that of known autosomal ...

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