LECTURE XI

Question 1

why genetic test?

Answer 1

prenatal diagnosis, heterozygote carrier detection, presymptomatic diagnosis of genetic disease

Question 2

how to genetic test?

Answer 2

analysis
treatment
disease management

Question 3

what are some examples of genome sequencing technology?

Answer 3

applied biosystem biosystems

Oxford nanopore minion

Question 4

components of informed consent?

Answer 4

minimize risk to subjects
sound research
when appropriate
risks are reasonable
risks vs benefits weighed
long range effects
special problems
informed consent
monitor data collected
patient privacy

Question 5

what are the elements that comprise HIPAA?

Answer 5

core elements
required elements
optional elements

Question 6

what are the core elements of HIPAA?

Answer 6

name
other persons involved
description of purpose
authorization expiration date
signature of individual

Question 7

what are the genetic techniques?

Answer 7

nucleic acid visualization
PCR
RFLP
DNA sequencing

Question 8

what are the mutation detection techniques?

Answer 8

RFLP
allele specific Oligos
DNA sequencing and mutation detection
trinucleotide

Question 9

what are the different levels of genetic testing?

Answer 9

DNA
Protein
Protein Function

Question 10

what kind of genetic testing is used for large changes in chromosomes, extra chromosomes, very large deletions or insertions?

Answer 10

analysis of whole chromosomes at the DNA level

Question 11

what kind of genetic testing is used for small changes; mutations in the sequence, small deletions or insertions?

Answer 11

analysis of sequence at the DNA level

Question 12

what kind of genetic testing is used for any change that may affect the folding of the protein?

Answer 12

analysis of protein shape at the protein level

Question 13

what kind of genetic testing is used for the functional protein?

Answer 13

analysis of protein function at the protein level

Question 14

example of single base pair mutation?

Answer 14

sickle cell anemia

Question 15

example of deletion?

Answer 15

cystic fibrosis

Duchenne muscular dystrophy

Question 16

example of insertion?

Answer 16

huntingtons disease

Question 17

example of multiple mutations?

Answer 17

diabetes, susceptibility to breast cancer

Question 18

how do we amplify target sequence?

Answer 18

polymerase chain reaction

melting
annealing
elongation 
melting
annealing
elongation

thus PCR test for deletion uses electrophoresis

Question 19

this type of analysis looks for polymorphism between people in the number of restriction sites?

Answer 19

RFLP analysis

Question 20

what are the issues of RFLOP analysis?

Answer 20

can not detect all mutations, the mutation must coincide with a restriction enzyme cut site

Question 21

what are the issues with sequencing?

Answer 21

informative
time consuming
expensive

Question 22

when is a dot blot used?

Answer 22

querying DNA or PCR products using radioactive oligomers; can be used to detect CF

Question 23

what type of analysis do we use to find out if patients DNA sequence is different?

Answer 23

sequencing

Question 24

this allows for the testing of many different mutations via many high throughput dot blots?

Answer 24

microarray

Question 25

as a result of clinical validity, what is the significance of DNA based tests?

Answer 25

genetic testing
genetic screening
-heterozygote screening
-newborn screening
-prenatal diagnositics
-presymptomatic testing

Question 26

what are the many techniques for prenatal genetic testing?

Answer 26

chronic villus sampling or amniocentesis
biomarker assays
ultrasonography
direct DNA based test

Question 27

this is a test used for couples at significantly increased risk for transmitting a harmful or predisposing allele to offspring?

Answer 27

preimplantation genetic diagnosis (PGD)

Question 28

what is the criteria for ideal candidates for gene therapy?

Answer 28

single defect
well characterized
significant morbidity and mortality
cells are experimentally accessible

Question 29

what do the genes into cells rely on?

Answer 29

viral or nonverbal vector system

Question 30

this is the introduction of a gene, or DNA sequence, into a cell to correct a genetic defect?

Answer 30

gene therapy

Question 31

this involves the alteration of genes in human somatic cells to treat a specific disorder?

Answer 31

somatic cell therapy

Question 32

this is a type of RNA virus that can insert its genome into the host cell after reverse transcribing their viral RNA into dsDNA (what is this called)

what is the disadvantage?

Answer 32

retroviral vector

transduction

due to preferentially integrating near promotor it can add into a proto-oncogene activating tumorogenesis getting into the nucleus when dividing

Question 33

this is due to inability of retroviruses to add into slowly or non dividing cells, other delivery systems instituted. Virus can be used in vaccines. Can accept inserts as large as 36kB in size

what is a disadvantage?

Answer 33

adenoviral vectors

DNA is not integrated into a chromosome and so it will not activate the proto oncogene and so transient expression results. This vector provokes an immune response

Question 34

this is a complex of RNA retroviruses that can also transduce non dividing cells through nuclear membrane, similar to HIV. This can accept inserts of 8kB. This type of vector is considered a focus of gene therapy protocols?

Answer 34

lentiviral vector

Question 35

challenges of viral gene therapy?

Answer 35

transient low level expression
difficulties reaching specified tissue/cells
necessity for precise regulation of gene activity
potential for insertion mutagenesis

Question 36

gene blocking/silencing therapies?

Answer 36

antisense oligonucleotides
ribozymes
RNAi