CFPII Block 4

Question 1

Expressivity

Answer 1

degree or severity in which symptoms are shown in individuals who possess specific genotype

Question 2

Mosaicism

Answer 2

not all of the cells in the individual are genetically identical

Question 3

Anticipation

Answer 3

severity of a disease gets worse with each generation

Question 4

Genomic imprinting

Answer 4

type of disease can vary based on whether they inherited the genetic defect from their mother or father

Question 5

Phenocopy

Answer 5

the same phenotype can caused by a genetic defect, disease or environmental

Question 6

allelic heterogeneity

Answer 6

different alleles of the same gene produce the same disease

Question 7

Locus heterogeneity

Answer 7

mutations in different genes or on different chromosomes can cause the same disease

Question 8

Complete penetrance

Answer 8

all individuals who have the genotype will express it in their phenotype

Question 9

Incomplete penetrance

Answer 9

some individuals with the genotype may not show in their phenotype

Question 10

Episomal genes

Answer 10

non-integrated genes or extra-chromosomal genes

Question 11

Germline therapy

Answer 11

Modification in gametes, changes are HERITABLE, not performed in humans

Question 12

Somatic Therapy

Answer 12

gene modification done in non-gamete cells, the changes are NOT HERITABLE, may need to repeated for future generations

non-reproductive

Question 13

Transduction

Answer 13

delivering a gene of interest into cells using cell-specific viruses with a high efficiency of gene transfer (viral mediated gene therapy)

Question 14

Transfection

Answer 14

delivering a gene of interest into cells using non-viral methods

Question 15

Gene alteration therapy

Answer 15

used to regulate gene expression/ protein production through the use of miRNA with attached inhibitor

degree to which gene turned on or off

Question 16

Gene replacement therapy

Answer 16

swaps the abnormal gene for a normal gene through homologous recombination

Question 17

Gene augmentation

Answer 17

insert normal gene into a non-specific location within the genome

replace nonfunctional

Question 18

Gene inhibition therapy

Answer 18

gene silencing, performed using antisense techniques or RNAi to block protein synthesis

inhibits gain of function

Question 19

Gene repair therapy

Answer 19

repairs an abnormal gene using zinc finger nucleases to cut the abnormal gene and homologous recombination to fix the error

Question 20

47th Chromosome technique

Answer 20

artificial chromosome capable of carrying large amounts of genetic material.

Question 21

Integrating viral vectors

Answer 21

viruses which integrate their nucleic acid into the host genome

Retrovirus and lentivirus

Question 22

Non-integrating viral vectors

Answer 22

viruses which do not integrate their nucleic acid with the host genome

adeno, pox, herpes

Question 23

Receptor-mediated endocytosis

Answer 23

viral coat binds to cell receptor site forming an endosome for entrance and ultimate incorporation into cell genome

Question 24

In vivo Liposome gene delivery

Answer 24

transfer of DNA through FUSION of an artificial lipid sphere with an aqueous core with the lipid bi-layer of the cells

Question 25

Ex vivo transfection

Answer 25

involves extraction of cells from an organism, insertion of foreign gene into the cells, then re-introduction of the modified cells into the organism

Question 26

In vivo transfection

Answer 26

transfection that involves insertion of foreign gene into the cells of a living organism directly introduced

Question 27

Bacterial gene transfer

Answer 27

uses bacteria to introduce foreign genes into target cells

Question 28

The first patient to be successfully treated with gene therapy had this disease?

Answer 28

ADA deficiency

Question 29

This disease was caused in a child who was treated for X-SCID in France

Answer 29

Leukemia

Question 30

One pt died due to an immune reaction to the engineered adenovirus inserted into the liver to treat this disease

Answer 30

OTC deficiency

Question 31

Apoptosis Characteristics

Answer 31

Chromatin Condensation Cell shrinkage Preservation of organelles and cell membranes Rapid engulfment by phagocytic cells

Question 32

Necrosis Characteristics

Answer 32

``` Nuclear Swelling Cell Swelling Disruption of organelles Rupture of cell and release of cellular contents Inflammatory response ```

Question 33

Adds the inhibitory phosphate to CDK

Answer 33

Wee-1 kinase

Question 34

Adds the activating phosphate to CDK

Answer 34

CAK (CDK-activating kinase)

Question 35

Removes the inhibitory phosphate form CDK

Answer 35

Cdc-25 phosphatase

Question 36

Separase

Answer 36

breaks cohesins bonds that keep sister chromatids together

Question 37

Securin

Answer 37

keeps separase inactive

Question 38

APC/C/Cdc20

Answer 38

ubiquitinate securin so that separase is released

Question 39

Totipotent

Answer 39

stem cells able to generate every cell type including extraembryonic (placental) tissue --> only a fertilized egg (zygote) possesses this capability

Question 40

Pluripotent

Answer 40

germ cells but NOT placental or umbilical cord

Question 41

Multipotent

Answer 41

cannot form all body's cell lineage

Question 42

Unipotent

Answer 42

single cell lineage

Question 43

Penetrance

Answer 43

the proportion of people who possess the genotype that actually sow the phenotype