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Flashcards in Biochemistry Deck (372)
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121

What does a southwestern blot identify?

DNA binding proteins

122

Cre-Lox is used to identify genes at what?

specific developmental points

123

Does RNAi used ssRNA or dsRNA? How does the RNA get into cells?

dsRNA

transfection

124

What does variable expressivity mean?

same genotype, different phenotype

125

What does incomplete penetrance mean?

not all genotypes show same phenetype

126

What does pleiotropy mean?

one gene can produce multiple different phenotypes

127

What is locus heterogeneity? What disease?

mutations at different loci can produce the same phenotypes

albinism

128

What is allelic heterogeneity? What disease?

different mutations in the same locus produce the same phenotype

Beta-thalassemia

129

What is heteroplasmy?

presence of both mutated and normal mtDNA result in variable expression of disease pattern

130

What is uniparental disomy?

a child receives two copies of a chromosome from one parent and none from the other

131

What chromosome is ADPKD carried on?

16

132

What chromosome is FAP carried on?

5

133

The levels of what two neurotransmitters are decreased in the brain during Huntingtons? What is the trinucleotide repeat of Huntingtons?

GABA and Ach

CAG

134

What chromosome is disrupted in Huntingtons?

Chromosome 4 (Hunting 4 Food)

135

What type of damage is done to the aorta during Marfans?

cystic medial degeneration

136

What two valves are primarily effected during Marfans?

aortic and mitral

137

What five glands are effected by Multiple Neocrine Neoplasia?

pancreas, parathyroid, pituitary, thyroid and adrenal medulla

138

What two forms of MEN are associated with the RET gene?

MEN 2A and MEN 2B

139

What chromosome is NF1 carried on?

17

140

What is the inheritance pattern of NF1?

Autosomal Dominant

141

What chromosome is NF2 carried on?

22

142

Which neurofibromatosis disease features cafe-au-lait spots and cutaneous neurofibromas?

NF1

143

What are the four findings of NF2?

bilateral acoustic schwanomas

juvenile cataracts

ependyoma

meningoma

144

What type of growth is seen during Tuberous Sclerosis?

Hamartomas

145

What chromosome is VHL disease carried on?

three

(three words in disease)

146

What protein does VHL usually inhibit the activation of? How does it accomplish this?

HIF1α

acts as an E3 ubiquitin ligase

147

What three genes can HIF1α activate?

VEGF, PDGF and Epo.

148

In what location(s) does normal CFTR functioning lead to the secretion of Cl-?

lungs and GI tract

149

In what location(s) does normal CFTR lead to the reabsorption of Cl-?

sweat glands

150

What type of disease can a loop diuretic mimic?

CF