Exam Questions and CORRECT Answers
Human genome project - CORRECT ANSWER - mapping entire human DNA sequence
Genotype - CORRECT ANSWER - 30-40,000 genes that make up our unique genetic
constitution
Phenotype - CORRECT ANSWER - The observable characteristics of your genotype;
including physical, physiologic, and molecular traits
Gene mutations - CORRECT ANSWER - a permanent change in the DNA structure and
sequence
i. Chemotherapy, radiation, chemical exposure, too much sun exposure, etc can cause mutations
Metabolomics - CORRECT ANSWER - - Process of identifying chemical fingerprints in
biofluids, such as blood/urine, that are left behind after metabolic processes are carried out
- Plays a role in how our bodies metabolize drugs/foreign compounds, and how chemicals in our
diets/nutrients derived from our diets influence health/disease
- Possibility of using blood/urinary metabolome to predict how a person would respond to a
drug(ie. personalized medicine)
Epigenetics - CORRECT ANSWER - a. Study of inherited changes in
phenotype(appearance) or gene expression caused by mechanisms other than changes in the
DNA
b. Sensitive to environment input and exposure
c. Can account for significant portion of health and lifespan
d. Can be related to genetics (body type, etc.)
Epigenetic variation - CORRECT ANSWER - caused by changes in gene regulation and
expression (changes to phenotype)
, i. Chemical modification of the DNA, not it's sequence
ii. Autoimmune, connective tissue diseases can sometimes be a result of this
1. Diabetes, IBS, etc.
2008 genetic information act - CORRECT ANSWER - create to prevent people from
losing their health insurance or employment due to genetic discrimination
ex: osteoporosis - darlene
BRCA 1 - CORRECT ANSWER - Breast cancer susceptibility gene 1
BRCA 2 - CORRECT ANSWER - Breast cancer susceptibility gene 2
BRCA 1 and BRCA2 - CORRECT ANSWER - genes responsible for most hereditary
cases of breast and ovarian cancer
Risk for BRCA 1 or 2 - CORRECT ANSWER - early menarche
no children
Ashkanazi jew
Mendelian - CORRECT ANSWER - a. George Mendel was an Austrian biologist (1822-
1884)
b. Formulated the laws forming the foundation of classical genetics
c. Monk who experimented with breeding pea plants
Mendelian inheritence - CORRECT ANSWER - i. The manner in which genes and traits
are passed from parent to child
ii. 4 modes
1. Autosomal dominant, autosomal recessive, x-linked dominant, x-linked recessive