Mutation, germline
A heritable change in the DNA that occurred in a germ cell (a cell destined to become an egg or in the sperm) or the zygote (the conceptus) at the single-cell stage. (This is also termed gonadal mosaicism) When transmitted to a child, a germline mutation is incorporated in every cell of their body.
Germline mutations play a key role in genetic diseases. They play a role, too, in certain types of cancer as, for example, the eye tumor retinoblastoma and Wilms tumor, a childhood malignancy of the kidney.
A germline mutation is in contrast to a somatic mutation which is acquired in a single body cell.
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- Mutation, null
A mutation (a change) in a gene that leads to its not being transcribed into RNA and/or translated into a functional protein product. For example, a null mutation in a gene that usually encodes a specific enzyme leads to the production of a nonfunctional enzyme or no enzyme at all.
- Mutation, point
A single nucleotide base change in the DNA. A point mutation may consist of the loss of a nucleotide, the insertion of an additional nucleotide, or the substitution of one nucleotide for another. The first point mutation discovered in humans involved the substitution of one nucleotide for another. It was in sickle hemoglobin, the molecular […]
- Mutation, private
A rare mutation found usually only in a single family or a small population. (It is like a privately printed book.)
- Mute
A mute is a person who does not speak, either from an inability to speak or an unwillingness to speak. The term “mute” is specifically applied to a person who, due to profound congenital (or early) deafness, is unable to use articulate language and so is deaf-mute. A mute in speech is a letter that […]
- Mutism
The inability or unwillingness to speak. A person who is mute cannot or does not care to talk. Someone who was mute was said to be dumb, not in the sense of being stupid, but in the sense of being devoid of the power of speech. The term “mutism” is specifically applied to people who, […]