Genotypes and Phenotypes in Individuals and Families

Question 1

“Heritability”

Answer 1

“Heritability” is the relative contribution of genetic factors to an observed phenotype.

Ex. 90% of variability in height may be explained by genetics, thus the “heritability” of height is 90%. (child height = 0.9(midparent height) + k)

Question 2

Mendelian diseases have a heriability of ____%.

Answer 2

Mendelian diseases have a heriability of 100%.

Question 3

Common diseases have a heriability of ____%.

Answer 3

Common diseases have a heriability of ~20-80%.

Question 4

Heritability may only be interpreted. . .

Answer 4

within a particular population.

Different environmental exposures could account for the differences

Question 5

Herability of Height in Corn

Answer 5

Question 6

Factors that come into play for polygenic diseases

Answer 6

1. The effect size of particular genes/alleles
2. Balancing risk factors and protective factors
3. Environmental Effects

Question 7

functional definition of a monogenic disease

Answer 7

one where the penetrance is much greater than the prevalencee, so that affected relatives are likely to carry the same pathogenic mutation.

Question 8

Odds Ratio

Answer 8

If >1, increased risk.

If <1, decreased risk.

If =1, no association with increased or decreased risk.

Question 9

Relative Risk

Answer 9

Question 10

Prior vs Posterior Probability

Answer 10

Question 11

Absolute Risk

Answer 11

True risk of disease (dependent on genetic, environmental, and other contextual factors)

Question 12

Pairwise concordance rate

Answer 12

the probability that a pair of twins will both have a phenotype, given that at least one of the pair has the phenotype

Question 13

Absolute risk is ___influenced by the incidence of disease than are relative risk/odds ratio

Answer 13

Absolute risk is much more influenced by the incidence of disease than are relative risk/odds ratio