Risk of inherited disease Flashcards Preview

Yr1 -S1 - Principles of Disease > Risk of inherited disease > Flashcards

Flashcards in Risk of inherited disease Deck (14):
1

Fitness

the relative ability of organisms to survive (long enough) too pass on their genes

2

Alleles can affect fitness

deleterious allele (decrease fitness)

advantageous allele (increase fitness)

3

Mutations in recessive genes rarely affect...

carriers

4

Notable recessive diseases

sickle cell disease
thalassaemia

5

Mutation in dominant and X-linked genes can be...

inherited OR de novo

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up to a third of lethal X-linked cases are due to...

de novo mutations

7

Hardy-Weinburg Equilibrium

allele frequencies remain constant throughout generations

8

Non-random mating can

increase mutant alleles

9

Genetic drift

random fluctuation of one allele transmitted to high proportion of offspring by chance

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assertive mating

choosing of partners who share characteristics (deafness etc)

11

Consanguinity

marriage between close blood relatives

12

Penetrance

the frequency with which a trait is manifested by individuals carrying the gene

13

Gynogenic

2 maternal genomes

ovarian teratoma

14

Androgenic

2 paternal genomes

mass of placenta