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HOMOPLASMIC MUTATION [2 records]

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Alphabetical list of terms

Record 1 2012-09-26

English

Subject field(s)
  • Genetics
CONT

Mitochondrial DNA heteroplasmy(a mixture of normal and mutant) explains why some individuals lose vision and others do not. Large families tend to be homoplasmic for the mutation and many members do not lose vision. Heteroplasmy seems to occur in families where the mutation has arisen recently. Exactly what percentage of mutant DNA is required to lose vision is not yet clear, and a mother's degree of heteroplasmy may differ from that of her offspring.

French

Domaine(s)
  • Génétique
CONT

Ainsi, quand un ovule fécondé contient une mutation de l'ADN mitochondrial dans certaines de ses mitochondries seulement (on parle alors d'hétéroplasmie), certaines des cellules filles peuvent hériter de nombreuses mitochondries contenant l'ADN muté, tandis que d'autres reçoivent davantage de mitochondries normales.

Spanish

Campo(s) temático(s)
  • Genética
DEF

Existencia de dos orgánulos diferentes genéticamente en una misma célula.

OBS

El equivalente a heterocigótico en el contexto de genes nucleares.

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Record 2 1998-12-02

English

Subject field(s)
  • Genetics
CONT

A homoplasmic mutation in the 12S rRNA gene, MTRNR1[ asterisk] DEAF1555G, has been found to correlate with neurosensory hearing loss. Additional factors may precipitate deafness in individuals harboring this mutation such as exposure to aminoglycoside antibiotics or other environmental or nuclear genetic factors.

French

Domaine(s)
  • Génétique
CONT

De plus, les divers ovocytes d'une femme qui a des cellules hétéroplasmiques ont des proportions variables d'ADN mitochondrial muté; ses enfants n'ont pas le même nombre de molécules d'ADN mitochondrial muté ni la même répartition de ces molécules dans les tissus; la nature et la gravité de leurs symptômes différeront. En revanche, une même mutation homoplasmique déclenche les mêmes symptômes.

Spanish

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