Estimating risk of inherited genetic diseases Flashcards Preview

Principles of disease (Ross Lilley) > Estimating risk of inherited genetic diseases > Flashcards

Flashcards in Estimating risk of inherited genetic diseases Deck (17)
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1

what is fitness?

the relative ability of organisms to survive to pass on their genes

2

what is a neutral allele?

an allele that does not affect fitness

3

what is a deleterious allele?

an allele that decreases an organisms fitness

4

what is an advantageous alllele?

an allele that increases the fitness of an organism

5

conditions in which recessive allele affects individual

sickle cell anaemia
thalassaemia

6

in what type of disorders are De novo mutations common?

dominant
also common in sex linked cases (1/3)

7

what does the Hardy-Weinburg equilibrium tell us about genotype frequencies over generations?

they remain constant

8

what are the assumptions underlying the hardy-weinburg equation?

-Mutation can be ignored
- Migration is negligible (No gene flow)
- Mating is random
- No selective pressure
- Population size is large
- Allele frequencies are equal in the sexes

9

what does mutation do to the proportion of new alleles?

it causes it to increase

10

what does migration do to the proportion of new alleles

it causes it to increases

11

what does non-random mating do to levels of mutant alleles/

it causes it to increases

12

what is assortative mating?

Choosing of partners due to shared characteristics

13

what is consanguinity?

marriage between close blood relatives

14

what is a heterozygote advantage?

organisms may be positively selected for if they are heterzygotes of a condition

15

genetic drift

Random fluctuation of one allele transmitted to high proportion of offspring by chance.

16

Founder effect

The reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.

17

what type of mutations are affected by genetic drift?

neutral