Genetic mutation Flashcards
What is genetic mutation?
It is the disorder of connective tissue resulting in flexible joints and scoliosis.
What causes genetic mutations?
Changes in an organism or in a species are actually caused by changes in their DNA sequences.
What are somatic mutations?
These are acquired mutations that originated in somatic cells and therefore cannot be inherited.
How does genetic mutation occur?
Genetic mutation happens when the wrong nucleotide is incorporated into the sequence during replication and transcription.
What can cause mutations?
They may be due to exposure to radiation.
What is heterochromia?
The presence of different eye colors is a somatic mutation.
What is the result of a mutation?
The change results in an altered amino acid sequence, which can lead to a defective protein and disruption of normal metabolic processes.
What are genetic mosaics?
Genetic mosaics have cells that are not genetically identical.
What is a harmful mutation?
This type of mutation can result in genetic disorders such as cancer formation.
What is a hereditary mutation?
This type of mutation is inherited from parents to offspring through gametes.
What is a beneficial mutation?
An aberrant gamete contains the mutated gene, and fertilization with this gamete results in a zygote with mutation.
What is porphyria?
It is a metabolic disorder caused by porphyrin build up because it is not degraded.
What are spontaneous mutations?
They are the ‘errors of nature’ that result from natural and random changes in DNA.
What are induced mutations?
They are caused by different agents, such as UV radiation, bromine, reactive oxygen species, intercalating agents, bacteria, and viruses.
How is Marfan Syndrome inherited?
It is inherited in an autosomal dominant pattern.
What types of mutations can be detected at the chromosomal level?
Chromosomal mutations.
