Flashcards in Biochemistry Deck (372)
What does a southwestern blot identify?
DNA binding proteins
Cre-Lox is used to identify genes at what?
specific developmental points
Does RNAi used ssRNA or dsRNA? How does the RNA get into cells?
What does variable expressivity mean?
same genotype, different phenotype
What does incomplete penetrance mean?
not all genotypes show same phenetype
What does pleiotropy mean?
one gene can produce multiple different phenotypes
What is locus heterogeneity? What disease?
mutations at different loci can produce the same phenotypes
What is allelic heterogeneity? What disease?
different mutations in the same locus produce the same phenotype
What is heteroplasmy?
presence of both mutated and normal mtDNA result in variable expression of disease pattern
What is uniparental disomy?
a child receives two copies of a chromosome from one parent and none from the other
What chromosome is ADPKD carried on?
What chromosome is FAP carried on?
The levels of what two neurotransmitters are decreased in the brain during Huntingtons? What is the trinucleotide repeat of Huntingtons?
GABA and Ach
What chromosome is disrupted in Huntingtons?
Chromosome 4 (Hunting 4 Food)
What type of damage is done to the aorta during Marfans?
cystic medial degeneration
What two valves are primarily effected during Marfans?
aortic and mitral
What five glands are effected by Multiple Neocrine Neoplasia?
pancreas, parathyroid, pituitary, thyroid and adrenal medulla
What two forms of MEN are associated with the RET gene?
MEN 2A and MEN 2B
What chromosome is NF1 carried on?
What is the inheritance pattern of NF1?
What chromosome is NF2 carried on?
Which neurofibromatosis disease features cafe-au-lait spots and cutaneous neurofibromas?
What are the four findings of NF2?
bilateral acoustic schwanomas
What type of growth is seen during Tuberous Sclerosis?
What chromosome is VHL disease carried on?
(three words in disease)
What protein does VHL usually inhibit the activation of? How does it accomplish this?
acts as an E3 ubiquitin ligase
What three genes can HIF1α activate?
VEGF, PDGF and Epo.
In what location(s) does normal CFTR functioning lead to the secretion of Cl-?
lungs and GI tract
In what location(s) does normal CFTR lead to the reabsorption of Cl-?