The Human Genome and Disease Flashcards
These are permanent changes to the DNA sequence.
Mutations
These are mutations that are inherited and passed on via gametes.
Germline mutations
These are mutations that are acquired by somatic cells if DNA is damaged or copied incorrectly. These are NOT passed onto the next generation.
Somatic mutations
The outcome of a mutation depends on:
- environmental effects
- other genes/genetic background
What is the driving force for evolution?
Genetic variation/mutations
The molecular basis of a mutation is not consistent because…
Mutations in a single gene can have MULTIPLE effects.
These are mutations with one mutant and one wildtype allele
Heterozygous mutation
These are mutations where both alleles are mutant
Homozygous mutation
This kind of mutation causes a phenotype when heterozygous.
Dominant
This kind of mutation causes a phenotype only when homozygous.
Recessive
so when the gene is homozygous and it results in a phenotype = recessive
These mutations are often recessive, because a normal copy of the gene exists on the chromosome which can replace the function.
Loss of function mutation
These mutations are often dominant, because they have an allele that works too well or does something novel and will not be replaced by normal copy of the gene
Gain of function mutations.
Inheritance pattern passed on by 2 asymptomatic carriers
Autosomal recessive
Inheritance pattern where affected individuals are likely to have an affected parent.
Autosomal dominant
Inheritance pattern where males are always affected.
- no male to male transmission
X-linked recessive
