Genetics

Question 1

driver mutation

Answer 1

A mutation that gives a selective advantage to a clone in its microenvironment, through either increasing its survival or reproduction. Driver mutations tend to cause clonal expansions.

Question 2

transgene

Answer 2

new gene inserted

Question 3

ex-vivo vs. in-vivo in gene therapy

Answer 3

ex-vivo = gene inserted into cell but not into genome, in-vivo = insertion into cell

Question 4

where are factors synthesized

Answer 4

all factors are synthesized in the liver, except for factor VIII, which is synthesized in endothelium.

Question 5

DIC vs. liver failure

Answer 5

Factor VIII → DIC vs. → if factor VIII is high, this suggests liver failure, not DIC

Question 6

genotoxicity

Answer 6

causing incidental mutations, genomic damage

there are 100’s of mutations that cause hemophilia

Question 7

How do you get rid of Factor VIII inhibitors

Answer 7

immune tolerance therapy – similar to allergy shots, daily antigen exposure until patient can tolerate it.

Question 8

driver vs passive mutation

Answer 8

A driver mutation is an alteration that gives a cancer cell a fundamental growth advantage for its neoplastic transformation. It differs from passenger mutations in that these do not necessarily determine the development of the cancer.

Question 9

what FISH is looking at

Answer 9

chromosomal abnormalities

Question 10

CD20

Answer 10

B cell antigen

Question 11

Immunophenotyping

Answer 11

• Technique used to study the protein expressed by cells.
• An example is the detection of tumor marker, such as in the diagnosis of leukemia.
• It involves the labelling of white blood cells with antibodies directed against surface proteins on their membrane.

Question 12

HLA and why important for transplantation

Answer 12

Cell-surface proteins responsible for the regulation of the immune system. You need HLA typing to identify a matched donor to prevent graft rejection.

Question 13

what is foundation one?

Answer 13

• One of the gene profiling assays based on.
• Used for people with any type of solid advanced cancer.
• Uses comprehensive genomic profiling (CGP) to search 324 genes for cancer-relevant mutations in the DNA of your tumor.

Question 14

Foundation medicine

Answer 14

Company based in Cambridge that sells genome profiling assays based on NGS

Question 15

allele burden refers to

Answer 15

proportion of mutated alleles

Question 16

Definition of compound heterozygote

Answer 16

2 different mutant alleles