Ethical Issues

Question 1

What is the study of the statistical distribution of genes to better within different populations.

Answer 1

Population Genetics

Question 2

What is one of the first identified beneficial mutations with regards to HIV

Answer 2

CCR5 - Homozygotes have a defective surface receptor that the HIV virus needs to enter and infect cells, making them immune to AIDS (will still test pos for HIV, no full-blown AIDS)

Question 3

What describes allelic and genotypic frequencies in populations

Answer 3

The hardy Weinberg Equation

Question 4

What are the 5 assumptions for the Hardy Weinberg equation.

Answer 4

Random mating

ii. Large population size
iii. No mutations
iv. No migration/genetic drift = no new alleles
v. No natural selection

Question 5

What is the hardy weinberg equation

Answer 5

p + q = 1 (where p and q represent the fraction of dominant and recessive alleles, respectively)
p2 + 2pq + q2 = 1
p2 = homozygous dominant (ex. AA)
q2 = homozygous recessive

Question 6

What are some Ways in which humans violate the hardy weinberg assumptions

Answer 6

1. Mutation - NF1 has 50% rate of de novo mutation

2. Nonrandom mating - Stratification, Assortative mating, c. Consanguinity and inbreeding

Question 7

What is it called when subgroups that are effectively genetically separate from a population will only breed amongst themselves?

Answer 7

Stratification

Question 8

What is it called when people choose mates based on possessing a particular trait (dwarfism and deafness)

Answer 8

Assortative mating

Question 9

What is it called when gene frequencies become randomized

Answer 9

Genetic Drift

Question 10

What is the name for an event that greatly reduces population size? what effects does it has?

Answer 10

Bottleneck effect - event that greatly reduces population size, randomly changing allelic frequencies

Question 11

Explain the founder effect

Answer 11

starting population size is very small, reducing genetic variation, allelic frequencies drift to predominantly one particular allele for a give trait
A founder effect can occur after a bottleneck event.

Question 12

Genome Wide Association Studies – Looks at whole genome to identify genetic associations with observable traits and differences in genome within and between population

Answer 12

A. This offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of personalized medicine.

Question 13

What is the term for when new genes are introduced to a population?

Answer 13

Gene flow (migration) -change allelic frequencies (via travel, etc.)

Question 14

How are SNPs catalogued?

Answer 14

In a HapMap - single nucleotide polymorphisms, a single base-pair mutation (most common C > T) that on average occurs every 1,000 base pairs in humans

Question 15

Characterization of SNPs may help in what?

Answer 15

identifying subsets of individuals at risk for specific diseases

Question 16

wHAT are Copy number variants? What are they caused by? what are they suspected to predict?

Answer 16

gene duplications/deletions cause an abnormal number of copies of a particular gene in genome (not always deleterious). - affects expressivity of a certain condition.
A. Can be caused by SNPs, insertions, deletions, nucleotide repeats, and gene repeats
B. Suspected to underlie genetic diversity and disease susceptibility