Term
| Describe Huntington's Disease |
|
Definition
-autosomal dominant
-tightly linked to RFLP
-gene contains 11-34 copies of CAG repeat
-HD patients have 42-100 copies forming polyQ region
-extra glutamines (Q) cause other proteins to bind to it |
|
|
Term
|
Definition
-autosomal recessive
-lungs, liver, pancreas are clogged with mucous leading to bacterial infection
-protein is an ion channel that regulates movement of water and salts into cell
-mutation at F508
-discovered by the following
1. 3 large CpG islands
2. sequence was conserved across different species
3. expressed in cells that were faulty |
|
|
Term
| Describe Molecular Diagnosis |
|
Definition
1. PCR- checking for trinucleotide repeats
2. Restriction digestion at certain genes
ex. sickle cell
3. Southern blot to test for mutant alleles
ex. Huntington's |
|
|
Term
Describe Gene Therapy
1. Description
2. Somatic
3. Role of virus |
|
Definition
1. adding a wild type gene to the genome
2. treat symptoms
-cells removed, DNA repaired with viruses, replaced into individual
3. Viral promoter increases expression
-not random, but active regions |
|
|
Term
| What are the problems with gene therapy? |
|
Definition
1. Integrations can break genes
(cause damage to cause repair)
2. They can cause genes to turn on that replicate uncontrollably (proto-oncogenes)
3. can act as antigen
4. expression might not be long lasting |
|
|
Term
| Describe DNA Fingerprints |
|
Definition
1. VNTR and SNP are different in individuals
-useful for paternity tests and investigations
SNPs- mutations that are normal
-mutations in genome that differ between individuals |
|
|
Term
Describe Commercial Genetics
1. Industrial
2. Agricultural |
|
Definition
-human gene products can be made from bacteria
1. Proteases - cleaning aids, tenderizers
amylase and glucose sweetners
Renin- cheese making
2. GMO- genetically modified organisms
Pigs (meat) Cows (milk) Crops (pesticide) Chickens (virus) |
|
|
