Risk of inherited disease Flashcards
Fitness
the relative ability of organisms to survive (long enough) too pass on their genes
Alleles can affect fitness
deleterious allele (decrease fitness)
advantageous allele (increase fitness)
Mutations in recessive genes rarely affect…
carriers
Notable recessive diseases
sickle cell disease
thalassaemia
Mutation in dominant and X-linked genes can be…
inherited OR de novo
up to a third of lethal X-linked cases are due to…
de novo mutations
Hardy-Weinburg Equilibrium
allele frequencies remain constant throughout generations
Non-random mating can
increase mutant alleles
Genetic drift
random fluctuation of one allele transmitted to high proportion of offspring by chance
assertive mating
choosing of partners who share characteristics (deafness etc)
Consanguinity
marriage between close blood relatives
Penetrance
the frequency with which a trait is manifested by individuals carrying the gene
Gynogenic
2 maternal genomes
ovarian teratoma
Androgenic
2 paternal genomes
mass of placenta
