Haploinsufficiency

From WikiMD.org
Jump to navigation Jump to search

Haploinsufficiency

Haploinsufficiency (/ˌhæploʊɪnˌsʌfɪˈʃɛnsi/) is a genetic condition where a diploid organism has only a single functional copy of a gene, with the other copy inactivated by mutation. The single working gene does not produce enough gene product (typically a protein) to exhibit a wild-type condition, leading to an abnormal or diseased state. It is a dominant mechanism.

Etymology

The term "haploinsufficiency" is derived from the Greek word "haploos" meaning "single" and the English word "insufficiency" meaning "inadequacy". It was first used in the context of genetics in the 20th century.

Related Terms

  • Allele: One of two or more versions of a gene that are found at the same place on a chromosome.
  • Mutation: A change in the DNA sequence of a gene.
  • Diploid: An organism or cell having two sets of chromosomes.
  • Gene: A segment of DNA that contains the instructions for making a specific protein or set of proteins.
  • Protein: A molecule composed of polymers of amino acids joined together by peptide bonds.
  • Dominant: A trait that will appear in the offspring if one of the parents contributes it.

See Also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski