week 2 Flashcards
what happens due to meiosis
there is a recombination between the two parental genomes (only shuffles the pack does not create anything new)
what is ‘crossing over’
As the DNA lines at the centromere similar DNA sequences from the paired chromosomes cross over one another.
examples of genetic mutations
- single-base substitutions (transitions and tansversions)
- simple sequence repeat expansions and contractions
- transposable element insertions
- segmental changes
what are mutations that have an effect called
deleterious
what is a Mendelian disease and examples of some
the effect of deleterious genetic mutations
- cystic fibrosis
- huntington’s disease
- Tay-Sachs disease
- Haemophilia
example of how to find genetic basis of a phenotype characteristic
assemble large groups of individuals with and without the trait and compare the frequency of different alleles
(using linkage & association studies)
homozygous definition
having two copies of the same allele
heterozygous definition
having one copy each of two different alleles
dominant definition
expressing its phenotypic effect when one or more copies are expresses (DD)
recessive definition
expressing its phenotypic effect only when two copies are present