Chapter 16 - Applications Of Molecular Genetics

Front 1

What type of genetic disorder is Huntington's disease?

Back 1

Autosomal dominant

Front 2

The huntington's disease was one of the first human genes shown to be tightly linked to what?

Back 2

RFLP (positional cloning)

Front 3

The huntington's disease gene contains _____ copies of _____ repeat.

Back 3

11-34; CAG

Front 4

True or false, Huntington's disease is sex linked?

Back 4

False

Front 5

What is used to determine CAG repeat number?

Back 5

PCR

Front 6

True or false, the predicted amino acid sequence of huntington's disease provided little functional info?

Back 6

True

Front 7

What forms the polyQ region in HD patients?

Back 7

The 42-100 copies of CAG repeat

Front 8

What type of genetic disorder is Cystic Fibrosis?

Back 8

Autosomal recessive

Front 9

What is cystic fibrosis allelic frequency in Caucasians?

Back 9

4%

Front 10

What is Cystic Fibrosis?

Back 10

The lungs, pancreas, and liver are clogged with mucus that facilitates chronic bacterial infections

Front 11

How is Cystic Fibrosis found?

Back 11

Like HD, its found by positional cloning technique

Front 12

A Wt comparison in Cystic Fibrosis resulted in what type of mutation?

Back 12

A F508 mutation that can be be tested by southern blotting

Front 13

The CF gene product is similar to what?

Back 13

Several ion channel proteins which form pores between cells through which ions pass

Front 14

Which protein forms ion channels through the membranes of epithelial cells of the lungs, intestine, pancreas, sweat glands, and some other organs.

Back 14

The CFTR protein

Front 15

What is the molecular diagnosis for Huntington disease?

Back 15

PCR length - trinucleotide repeats

Front 16

What is the molecular diagnosis for CF?

Back 16

Allele specific oligonucleotides for southerns

Front 17

What is the molecular diagnosis for sickle cell anemia?

Back 17

Restriction digestion of the sickle cell beta-globingene

Front 18

What is removed from the normal beta-globin allele to produce the sickle-cell beta globin allele?

Back 18

A Mstl cleavage site

Front 19

What is gene therapy?

Back 19

Adding a wild-type copy (tans gene) to the genome

Front 20

What does somatic-cell gene therapy do?

Back 20

Treats symptoms but does not cure the disease

Front 21

What happens to patients cells during somatic-cell gene therapy?

Back 21

The patients cells are removed, repaired and replaced

Front 22

Why are viruses most commonly used to transport/integrate the wt gene in somatic-cell gene therapy?

Back 22

Because the wt genes must be introduced into and expressed in cells homozygous or homozygous for a mutant allele of the gene

Front 23

True or false, "repaired" explant cells can be selected for somatic cell gene therapy?

Back 23

True

Front 24

What are the two disadvantages of using viruses for somatic cel gene therapy?

Back 24

Viruses are good at infection and integration

Front 25

What are the four biggest problems in gene therapy?

Back 25

1. Integrations can break genes

2. Integrations can influence neighboring genes

3. Viruses can result in immune response

4. Although transgene is stable, expression is not

Front 26

Why is gene replacement protocols more effective than gene addition protocols in gene therapy?

Back 26

Because gene addition does not replace the defective gene with a functional gene.

Front 27

What is DNA fingerprints useful for?

Back 27

Paternity tests and forensic studies

Front 28

True or false, SNPs and VNTRs are always different?

Back 28

False, SNPs and VNTRs are the same in identical twins

Front 29

How long are VNTRs?

Back 29

VNTRs are 10-80 nucleotide base pairs long

Front 30

What is commercial genetics?

Back 30

Human gene products can be made from bacteria

Front 31

What are the three industrial applications for commercial genetics?

Back 31

1. Proteases (cleaning aids, tenderizers,digestive aids)

2. Amylasesand glucose isomerase (sweeteners)

3. Rennin(cheese making)

Front 32

What are the three agricultural applications for commercial genetics?

Back 32

1. GMO (genetically modified organisms)

2. Pigs(meat), Cows (milk), Crops (yield, resistance)

3. Chickens (Avian Leukosis Virus resistance)

Front 33

What is reverse genetics (in what direction do you work from)?

Back 33

Products to genes

Front 34

What are the functions of double stranded DNA? Name the three

Back 34

1. Shuts off/interferes with expression of genes containing same nucleotide sequence

2. Prevents viral infections

3. Regulates gene expression and combats expansion of populations of transposable genetic elements

Front 35

What are the natural form of dsDNAs called?

Back 35

miRNA (in vivo in plants and animals)

Front 36

What are knockout mutations and what do they do?

Back 36

knockout mutations are also called null mutations and they are foreign DNA that are inserted into genes via homologous recombination and disrupt the function of the gene

Front 37

Define RNAi

Back 37

Used to silence genes or turn down/off their expression. It is only seen thru its products made from RNA

Front 38

Define siRNA

Back 38

Short interfering RNA - commonly used RNAi for inducing short term silencing of protein coding sequences. Synthetic and is an RNA duplex designed to target particular mRNA for degradation.

Front 39

Define shRNA

Back 39

Artificial RNA with hairpin turn that is used to silence target gene expression through RNAi. This is done via delivery of plasmids, viral, or bacterial vectors