exam 2 olson

Question 1

amorph / nullimorph

Answer 1

total loss of function

null mutation

Question 2

hypomorph

Answer 2

reduced function of gene due to not enough protein or the protein isn’t active enough
usually recessive, depends on haplosufficiency

Question 3

hypermorph

Answer 3

increased function of the gene due to too many copies of the gene or overactive protein
usually dominant, depends on haplosufficiency
ex: proto-oncogenes

Question 4

antimorph

Answer 4

creates an antagonist effect
dominant negative mutation
Ex: parkinson’s, collagen disesases

Question 5

neomorph

Answer 5

creates a new effect or product
gain of function mutation
Ex: prions

Question 6

neo-morpheus

Answer 6

starts good, then gets lame

Question 7

law of multifactorial inheritance

Answer 7

phenotype = genotype + environment

Question 8

epistasis

Answer 8

one gene is dependent on one or more ‘modifier genes’

interactions of genes with other genes, and genes with the environment, can lead to disease states

Question 9

qualitative traits

Answer 9

one has the disease or not, it is present or absent, a discrete case
influenced by only one gene with different alleles (monogenic, allele heterogeneity)
lots of human diseases

Question 10

quantitative traits

Answer 10

a measurable physiological or biochemical quantity that is not discrete but is within a range - blood pressure, blood glucose concentration, serum cholesterol, etc.
most human phenotypic traits
influenced by multiple genes (polygenic, loci heterogeneity)

Question 11

familial aggregation

Answer 11

a family cluster of individuals affected by a disease with complex inheritance

Question 12

concordance and discordance

Answer 12

two family members have the same disease (but not proof of genetic factors)

one family member is affected but the other is not

Question 13

relative risk

Answer 13

measurement of familial aggregation
more common a disease is, more likely familial aggregation is coincidental
prevalence of disease among relatives / prevalence of general population
high λr = more likely to be inherited

Question 14

concordance and genetic inheritance

Answer 14

for genetic diseases, concordance should increase as relatedness of affected family members increases (and vice versa)

Question 15

GWAS

Answer 15

look for differences in SNPs (single nucleotide polymorphisms) between affected and unaffected