Genetics of Common Diseases

Question 1

RR increases when?

Answer 1

as the number of affected relatives increase
as the severity of the disease expression increases
if the affected individual is a member of the less commonly affected sex

Question 2

T/F: if the RR for a single-gene d/o remains the same, the prevalence of the disease in the population will also remain the same while the empirical risk for multifactorial diseases increases with an increase in population prevalence

Answer 2

true

Question 3

what is Li-Fraumeni syndrome?

Answer 3

rare, familial cancer syndrome that shows multifactorial inheritance
AD dz w/25x increased risk for various cancers by 50 yo
specifically, it is a disorder of loss-of-function mutation in tumor suppressor gene p53 on 17q13.1

Question 4

what does protein p53 do?

Answer 4

stops a cell with damaged DNA from entering S phase and replicating its DNA
protein normally keeps the mutation rate and risk of cancer low

Question 5

what is a second hit?

Answer 5

when there is a loss-of-function somatic mutation in a cell when someone is already heterozygous with a mutated gene

Question 6

what is the p53-DC vaccine?

Answer 6

cancer vax consisting of autologous dendritic cells transduced with a recombinant adenovirus encoding p53 peptide
transdermal injection raises cytotoxic T-lymphocytes against cells expressing mutant p53 genes

Question 7

what is rAd-p53 gene therapy?

Answer 7

replication-defective, recombinant adenoviral vector that encodes the wild-type human tumor-suppressor protein p53 gene
administered intratumoraly it attaches to the coxsakie and adenovirus receptor on the tumor cells and causes over-expression of the wild-type p53 gene
reaction drives the stimulation of NK cells and cytotoxic T-lymphocytes

Question 8

liability for common diseases in a population can be represented by what kind of distribution?

Answer 8

Gaussian (normal)