Gene Therapy Flashcards
A gene is a sequence of ______ in the region of ______ that encodes the synthesis of a gene product either _____/____
nucleotides
DNA/RNA
RNA/protein.
A chromosome consists of a _________ on which ___________ are encoded.
long strand of DNA
thousands of genes
The human chromosome can have up to __________ base pairs of DNA with thousands of genes.
500 million
List the 3 stop codons
UAA, UAG and UGA)
GENE MUTATIONS • These could be in form of :
• _______ Mutation
• ________ Mutation
•_____________
Point
Frameshift
Error in recombination
Point mutation includes:???
Silent
Nonsense
Missense
Those who have _____ are resistant to malaria
Sickle cell
Sickle cell Anaemia is caused by a ______ mutation
Point cell
_________ and _______ are the two forms of frameshift mutations that might occur.
Insertion mutations and deletion mutations
Signs and symptoms of Down’s syndrome
-___ appearing face
-____ head
-____ mouth
-______ eyes
-______ cheeks
-_______ muscles
flat
small
small
upward slanting
rounded
weak , floppy
Single gene disorders including sicklecell anemia , _____,______,_______
cystic fibrosis, haemochromatosis, β Thalassemia.
Hungtington’s disease affects the brain’s ______
Basal ganglia
HUNTINGTON’S CHOREA
• Results in a loss of _______ and ______ function.
• The symptoms usually do not appear until after____ years old.
• 1in10,000people.
muscle control
mental
30
CYSTIC FIBROSIS
______ in bronchi is (thin or thick?) , interfering with ____ function
1in25arecarriers
Mucus
Thick
lung
One of the first disorders to be actively studied for gene therapy is ??
Cystic fibrosis
Most lethal autosomal recessive disorder in U.S is ??
Cystic fibrosis
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.
does not clot properly.
Recessive
________ is also called Royaltydisease
Hemophilia
ADENOSINE DEAMINASE (ADA) DEFICIENCY
ADA-deficient persons are affected by __________, with recurrent _______ that might be life-threatening.
severe immunodeficiency
infections
First disease approved for gene therapy??
ADA deficiency
ADA deficiency is an Autosomal (dominant or recessive ?) disorder.
Recessive
ADA deficiency has no drug
T/F
F
The drug exists but is very expensive, needs to be injected in vein for life.
ADA deficiency is rarest of genetic disorders
T/F
T
Death is sure if ADA deficiency is left untreated
T/F
T
Gene therapy is treatment of diseases by ____________
repairing or reconstructing a defective genetic material.
the genomes of cells in an adult organism can be edited using __________ techniques to treat genetic diseases.
gene therapy
Gene therapy
There are four approaches:
1. A ________________
2. An ___________
3. An ________________
4. Change the ____________
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
TYPES OF GENETHERAPY
•______ gene therapy
•_________ gene therapy
Germ line
Somatic cell (body cell)
TYPES OF GENETHERAPY
• Germ-line gene therapy would be the (temporary or permanent?) transfer-of a-gene into ________
Permanent
spermatozoa or egg cells.
Modifying a germ cell causes all the organism’s cells to ____________ hence causing ________
contain the modified gene
heritable changes passed on to later generations
Future generations would be “cured”.
Is for _______ gene therapy
Germ line
Somatic cell(body cell)gene therapy
is ideally only the _______ to ________.
Any such modifications affect the ____________,and _________
transfer of genes
the affected cells
individual patient only
are not inherited by offspring.
OVERVIEW OF THE STEPS IN GENE THERAPY
To design and carry out a gene therapy treatment,a researcher must:
- _____ the gene(s) responsible for the disorder.
2._______ of the________ - _______________.
- _______________ with the vectors.
- _____ the gene so that transcription and translation take place.
Identify
Make copies; normal gene.
Insert the copies into vectors
. “Infect” the affected cells
Activate
VECTORS USED IN GENE THERAPY
• Gene therapy utilizes the delivery of DNA into cells, which can be accomplished by two major methods :
• ________
• _______ methods by _________ .
Viralvectors
Non-viral ; inserting nakedDNA or DNA complexes
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)
Recombinant
Adeno
Adeno-Associated
Herpes Simplex
PROS AND CONS OF VIRAL VECTORS
• Adenovirus
+_________
−_______________
• Retrovirus
+___________
− ____________
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
PROS AND CONS OF VIRAL VECTORS
• Adeno-Associated Virus (AAV)
+ __________
−__________
• Herpes SimplexVirus (HSV)
+___________
−________
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.
Mention 2 conditions that you know that are autosomal dominant
Familial hypercholerostemia
Hungtington’s chorea
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.
genetically engineered herpes
melanoma; cannot be operated on
subset of lesions
Talimogene laherparepvec.
____ genes were removed
– one that __________________________, and another that ___________ – and a gene for ________ was added.
Two
shuts down an individual cell’s defenses
helps the virus evade the immune system
human GM- CSF
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.
replicating in cancer cells,
burst
stimulate an immune response
Mention the affected gene and the inheritance pattern
Familial hypercholesterolemia
LDL receptor
Dominant
Mention the affected gene and the inheritance pattern
Sickle cell Anaemia
Beta globin
Recessive
Mention the affected gene and the inheritance pattern
Cystic fibrosis
CFTR
recessive
Mention the affected gene and the inheritance pattern
Duchenne muscular dystrophy
Dystrophine
X-linked Recessive
Mention the affected gene and the inheritance pattern
Hemochromatosis
HFE
recessive
Mention the affected gene and the inheritance pattern
Huntington
Huntington
Dominant
Mention the affected gene and the inheritance pattern
Tay sacs
Hexosaminidase
Recessive
Mention the affected gene and the inheritance pattern
Congenital deafness
Connexin 26
Recessive
