estimating risk of inherited disease and genetics in clinic Flashcards
1
Q
Hardy- Weinberg principle?
A
main principles are:-
allele frequencies remain constant generation to generation
relative proportion of genotype frequencies also remain constant
although there are exceptions to these ie if changes/mutations occur
this is assuming it is an ideal population
2
Q
what is an ideal population like in HWE terms
A
mutations can be ignored mating is random no selective pressure population size is large allele frequencies are equal in sexes
3
Q
examples of non-random mutation
A
marrying/mating with relatives
arranged marriages- in same culture
4
Q
new mutations arise if they are…
A
neutral or beneficial then they can come into a population
5
Q
founder effect
A
small population sets up a big population
6
Q
bottle neck
A
reduced genetic diversity
gets smaller
7
Q
Clinical assessment of genetics
A
pedigree
genetic test
clinical examination of individual and family
synthesis
