Gene Therapy

Question 1

A gene is a sequence of ______ in the region of ______ that encodes the synthesis of a gene product either _____/____

Answer 1

nucleotides

DNA/RNA

RNA/protein.

Question 2

A chromosome consists of a _________ on which ___________ are encoded.

Answer 2

long strand of DNA

thousands of genes

Question 3

The human chromosome can have up to __________ base pairs of DNA with thousands of genes.

Answer 3

500 million

Question 4

List the 3 stop codons

Answer 4

UAA, UAG and UGA)

Question 5

GENE MUTATIONS • These could be in form of :

• _______ Mutation
• ________ Mutation
•_____________

Answer 5

Point

Frameshift

Error in recombination

Question 6

Point mutation includes:???

Answer 6

Silent
Nonsense
Missense

Question 7

Those who have _____ are resistant to malaria

Answer 7

Sickle cell

Question 8

Sickle cell Anaemia is caused by a ______ mutation

Answer 8

Point cell

Question 9

_________ and _______ are the two forms of frameshift mutations that might occur.

Answer 9

Insertion mutations and deletion mutations

Question 10

Signs and symptoms of Down’s syndrome

-___ appearing face
-____ head
-____ mouth
-______ eyes
-______ cheeks
-_______ muscles

Answer 10

flat

small

small

upward slanting

rounded

weak , floppy

Question 11

Single gene disorders including sicklecell anemia , _____,______,_______

Answer 11

cystic fibrosis, haemochromatosis, β Thalassemia.

Question 12

Hungtington’s disease affects the brain’s ______

Answer 12

Basal ganglia

Question 13

HUNTINGTON’S CHOREA

• Results in a loss of _______ and ______ function.
• The symptoms usually do not appear until after____ years old.
• 1in10,000people.

Answer 13

muscle control

mental

30

Question 14

CYSTIC FIBROSIS

______ in bronchi is (thin or thick?) , interfering with ____ function

1in25arecarriers

Answer 14

Mucus

Thick

lung

Question 15

One of the first disorders to be actively studied for gene therapy is ??

Answer 15

Cystic fibrosis

Question 16

Most lethal autosomal recessive disorder in U.S is ??

Answer 16

Cystic fibrosis

Question 17

HEMOPHILIA

A disorder in which a person’s blood ___________

It is a (dominant or recessive?) sex-linked,X- chromosome disorder.
• 1 in 10,000 males born are afflicted.

Answer 17

does not clot properly.

Recessive

Question 18

________ is also called Royaltydisease

Answer 18

Hemophilia

Question 19

ADENOSINE DEAMINASE (ADA) DEFICIENCY

ADA-deficient persons are affected by __________, with recurrent _______ that might be life-threatening.

Answer 19

severe immunodeficiency

infections

Question 20

First disease approved for gene therapy??

Answer 20

ADA deficiency

Question 21

ADA deficiency is an Autosomal (dominant or recessive ?) disorder.

Answer 21

Recessive

Question 22

ADA deficiency has no drug

T/F

Answer 22

F

The drug exists but is very expensive, needs to be injected in vein for life.

Question 23

ADA deficiency is rarest of genetic disorders

T/F

Answer 23

T

Question 24

Death is sure if ADA deficiency is left untreated

T/F

Answer 24

T

Question 25

Gene therapy is treatment of diseases by ____________

Answer 25

repairing or reconstructing a defective genetic material.

Question 26

the genomes of cells in an adult organism can be edited using __________ techniques to treat genetic diseases.

Answer 26

gene therapy

Question 27

Gene therapy There are four approaches: 1. A ________________ 2. An ___________ 3. An ________________ 4. Change the ____________

Answer 27

normal gene inserted to compensate for a nonfunctional gene. abnormal gene traded for a normal gene abnormal gene repaired through selective reverse mutation regulation of gene pairs

Question 28

TYPES OF GENETHERAPY •______ gene therapy •_________ gene therapy

Answer 28

Germ line Somatic cell (body cell)

Question 29

TYPES OF GENETHERAPY • Germ-line gene therapy would be the (temporary or permanent?) transfer-of a-gene into ________

Answer 29

Permanent spermatozoa or egg cells.

Question 30

Modifying a germ cell causes all the organism's cells to ____________ hence causing ________

Answer 30

contain the modified gene heritable changes passed on to later generations

Question 31

Future generations would be “cured”. Is for _______ gene therapy

Answer 31

Germ line

Question 32

Somatic cell(body cell)gene therapy is ideally only the _______ to ________. Any such modifications affect the ____________,and _________

Answer 32

transfer of genes the affected cells individual patient only are not inherited by offspring.

Question 33

OVERVIEW OF THE STEPS IN GENE THERAPY To design and carry out a gene therapy treatment,a researcher must: 1. _____ the gene(s) responsible for the disorder. 2._______ of the________ 3. _______________. 4. _______________ with the vectors. 5. _____ the gene so that transcription and translation take place.

Answer 33

Identify Make copies; normal gene. Insert the copies into vectors . “Infect” the affected cells Activate

Question 34

VECTORS USED IN GENE THERAPY • Gene therapy utilizes the delivery of DNA into cells, which can be accomplished by two major methods : • ________ • _______ methods by _________ .

Answer 34

Viralvectors Non-viral ; inserting nakedDNA or DNA complexes

Question 35

VECTORS USED IN GENE THERAPY • Gene therapy utilizes the delivery of DNA into cells, which can be accomplished by two major methods : • Viralvectors I. ______ viruses II. _____virus III.______ Virus (AAV) IV._______ Virus (HSV)

Answer 35

Recombinant Adeno Adeno-Associated Herpes Simplex

Question 36

PROS AND CONS OF VIRAL VECTORS • Adenovirus +_________ −_______________ • Retrovirus +___________ − ____________

Answer 36

Infects many cell types ; does not Integrates into host genome and can be lost Integrates into host genome and cannot be lost; Integrates into host genome and can cause cancer

Question 37

PROS AND CONS OF VIRAL VECTORS • Adeno-Associated Virus (AAV) + __________ −__________ • Herpes SimplexVirus (HSV) +___________ −________

Answer 37

Integrates into host genome and cannot be lost ; Difficult to work with. DNA stays in nucleus without integrating into host genome. ; Only infects cells of the nervous system.

Question 38

Mention 2 conditions that you know that are autosomal dominant

Answer 38

Familial hypercholerostemia Hungtington’s chorea

Question 39

Talimogene laherparepvec is a __________ virus, biopharmaceutical drug used to treat _____ that _______ it is injected directly into a ______ which generates a systemic immune response against the patient's cancer.

Answer 39

genetically engineered herpes melanoma; cannot be operated on subset of lesions

Question 40

Talimogene laherparepvec. ____ genes were removed – one that __________________________, and another that ___________ – and a gene for ________ was added.

Answer 40

Two shuts down an individual cell's defenses helps the virus evade the immune system human GM- CSF

Question 41

Talimogene laherparepvec. The drug works by _______, causing them to _____; it was also designed to ___________ against the patient's cancer, which has been demonstrated by multiple pieces of data, including regression of tumors which have not been injected with Talimogene laherparepvec.

Answer 41

replicating in cancer cells, burst stimulate an immune response

Question 42

Mention the affected gene and the inheritance pattern Familial hypercholesterolemia

Answer 42

LDL receptor Dominant

Question 43

Mention the affected gene and the inheritance pattern Sickle cell Anaemia

Answer 43

Beta globin Recessive

Question 44

Mention the affected gene and the inheritance pattern Cystic fibrosis

Answer 44

CFTR recessive

Question 45

Mention the affected gene and the inheritance pattern Duchenne muscular dystrophy

Answer 45

Dystrophine X-linked Recessive

Question 46

Mention the affected gene and the inheritance pattern Hemochromatosis

Answer 46

HFE recessive

Question 47

Mention the affected gene and the inheritance pattern Huntington

Answer 47

Huntington Dominant

Question 48

Mention the affected gene and the inheritance pattern Tay sacs

Answer 48

Hexosaminidase Recessive

Question 49

Mention the affected gene and the inheritance pattern Congenital deafness

Answer 49

Connexin 26 Recessive