Complex Disease and Pharmacogenetics

Question 1

what is a Mendelian trait?

Answer 1

a trait which is controlled by a single gene

Question 2

complex trait?

Answer 2

controlled by multiple genes and the effect of the environment

Question 3

example of a complex trait?

Answer 3

height, weight, intelligence

Question 4

example of a complex disease?

Answer 4

cardiovascular disease

Question 5

example of Mendelian trait?

Answer 5

SCD

Question 6

heritability?

Answer 6

how much of our phenotypic difference is due to genetic differences

Question 7

causes of phenotypic differences?

Answer 7

genetic differences
environment (shared, unique)

Question 8

which studies can be used for heritability?

Answer 8

twin studies
compare identical and non-identical twins to see if a trait is heritable or not

Question 9

what is an SNP?

Answer 9

= single nucleotide polymorphism
i.e. a change in a single nucleotide in a sequence
will account for majority of polymorphism that is responsible for disease
can be in coding and non-coding regions
and can have effect in both regions

Question 10

association studies?

Answer 10

examine association between a particular SNP and the risk of disease
compare group with SNP and group without (control) and do a significance test on chance of prevalence of disease in each group