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House Pharmacology > Gene Therapy > Flashcards

Gene Therapy Flashcards

1
Q

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

A

nucleotides

DNA/RNA

RNA/protein.

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2
Q

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

A

long strand of DNA

thousands of genes

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3
Q

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

A

500 million

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4
Q

List the 3 stop codons

A

UAA, UAG and UGA)

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5
Q

GENE MUTATIONS • These could be in form of :

• _______ Mutation
• ________ Mutation
•_____________

A

Point

Frameshift

Error in recombination

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6
Q

Point mutation includes:???

A

Silent
Nonsense
Missense

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7
Q

Those who have _____ are resistant to malaria

A

Sickle cell

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8
Q

Sickle cell Anaemia is caused by a ______ mutation

A

Point cell

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9
Q

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

A

Insertion mutations and deletion mutations

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10
Q

Signs and symptoms of Down’s syndrome

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

A

flat

small

small

upward slanting

rounded

weak , floppy

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11
Q

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

A

cystic fibrosis, haemochromatosis, β Thalassemia.

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12
Q

Hungtington’s disease affects the brain’s ______

A

Basal ganglia

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13
Q

HUNTINGTON’S CHOREA

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

A

muscle control

mental

30

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14
Q

CYSTIC FIBROSIS

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

1in25arecarriers

A

Mucus

Thick

lung

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15
Q

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

A

Cystic fibrosis

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16
Q

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

A

Cystic fibrosis

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17
Q

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.

A

does not clot properly.

Recessive

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18
Q

________ is also called Royaltydisease

A

Hemophilia

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19
Q

ADENOSINE DEAMINASE (ADA) DEFICIENCY

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

A

severe immunodeficiency

infections

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20
Q

First disease approved for gene therapy??

A

ADA deficiency

21
Q

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

A

Recessive

22
Q

ADA deficiency has no drug

T/F

A

F

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

23
Q

ADA deficiency is rarest of genetic disorders

T/F

A

T

24
Q

Death is sure if ADA deficiency is left untreated

T/F

A

T

25
Q

Gene therapy is treatment of diseases by ____________

A

repairing or reconstructing a defective genetic material.

26
Q

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

A

gene therapy

27
Q

Gene therapy

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

A

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

28
Q

TYPES OF GENETHERAPY
•______ gene therapy

•_________ gene therapy

A

Germ line

Somatic cell (body cell)

29
Q

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

A

Permanent

spermatozoa or egg cells.

30
Q

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

A

contain the modified gene

heritable changes passed on to later generations

31
Q

Future generations would be “cured”.

Is for _______ gene therapy

A

Germ line

32
Q

Somatic cell(body cell)gene therapy
is ideally only the _______ to ________.

Any such modifications affect the ____________,and _________

A

transfer of genes

the affected cells

individual patient only

are not inherited by offspring.

33
Q

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________
  2. _______________.
  3. _______________ with the vectors.
  4. _____ the gene so that transcription and translation take place.
A

Identify

Make copies; normal gene.

Insert the copies into vectors

. “Infect” the affected cells

Activate

34
Q

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

• _______ methods by _________ .

A

Viralvectors

Non-viral ; inserting nakedDNA or DNA complexes

35
Q

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)

A

Recombinant

Adeno

Adeno-Associated

Herpes Simplex

36
Q

PROS AND CONS OF VIRAL VECTORS

• Adenovirus
+_________
−_______________

• Retrovirus
+___________
− ____________

A

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

37
Q

PROS AND CONS OF VIRAL VECTORS

• Adeno-Associated Virus (AAV)
+ __________
−__________

• Herpes SimplexVirus (HSV)
+___________
−________

A

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.

38
Q

Mention 2 conditions that you know that are autosomal dominant

A

Familial hypercholerostemia

Hungtington’s chorea

39
Q

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.

A

genetically engineered herpes

melanoma; cannot be operated on

subset of lesions

40
Q

Talimogene laherparepvec.

____ genes were removed

– one that __________________________, and another that ___________ – and a gene for ________ was added.

A

Two

shuts down an individual cell’s defenses

helps the virus evade the immune system

human GM- CSF

41
Q

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.

A

replicating in cancer cells,

burst

stimulate an immune response

42
Q

Mention the affected gene and the inheritance pattern

Familial hypercholesterolemia

A

LDL receptor

Dominant

43
Q

Mention the affected gene and the inheritance pattern

Sickle cell Anaemia

A

Beta globin

Recessive

44
Q

Mention the affected gene and the inheritance pattern

Cystic fibrosis

A

CFTR

recessive

45
Q

Mention the affected gene and the inheritance pattern

Duchenne muscular dystrophy

A

Dystrophine

X-linked Recessive

46
Q

Mention the affected gene and the inheritance pattern

Hemochromatosis

A

HFE

recessive

47
Q

Mention the affected gene and the inheritance pattern

Huntington

A

Huntington

Dominant

48
Q

Mention the affected gene and the inheritance pattern

Tay sacs

A

Hexosaminidase

Recessive

49
Q

Mention the affected gene and the inheritance pattern

Congenital deafness

A

Connexin 26

Recessive

House Pharmacology (50 decks)

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