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38 Cards in this Set

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Full term neonate of uneventful delivery becomes mentally retarded and hyperactive and has musty odor

WHat is the diagnosis
PKU
Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic

WHat is the mechanism
NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
2 year old girl has increase in abdominal girth, failure to thrive and skin and hair depigmentation - what is the diagnosis
Kwashiorkor
Alcoholic develops rash, diarrhea and altered mental status

What is the vitamin defficiency
B3 (pellagra)
20 year old male presents with idiopathic hyperbillirubinemia

WHat is the most common cause
Gilberts syndrome
51 year old man has black spots on his sclera and has noted that urine turns black when he is standing
Alkaptonuria
25 year old complains of chest pains and has xanthoma of Achilles tendon

What is his disease and where is the defect
Familial hypercholesterolemia, lDL receptor
Condensed by negatively charged DNA looped twice around positively charged H2a, H2b, H3 and H4 histones (nucleosome bead)
Chromatin
_ ties nucleosomes together in a string (30 nm fiber)
H1 histone
Condensed, transcriptionally inactive chromatin
Heterochromatin
Less condensed, transcriptionally active chromatin
Euchromatin
Name purines
A, G

PURe As Gold
Name pyrimidines
C, T, U

CUT Pye
Which nucleotides have two rings?
Purines
WHich nucleotides have one ring?
Pyrimidines
Which nucleotide has a ketone
guanine
Which nucleotide has methyl
thymine
Deamination of cytosine makes _
Uracyl
Uracil is found in _

Thymine is found in _
Uracil - RNA

Thymine - DNA
Which bond is stronger GC or AT
GC (3 H bonds), AT is weaker (2 H bonds)
If GC content is increased what happens to melting temperature
Increases
Nucleotides are linked by _
3-5 phosphodiesterase bond
Substituting purine for purine or pyrimidine for pyrimidine is called ?
TransItion (identical)
Substituting purine for pyrimidine or vice versa
TransVersion (conVersion between types)
4 features of genetic code
Unambiguous (each codon for only one amino acid)

Degenerate (more then one codon can code for same amino acid)

COmmaless, nonoverlapping

Universal
Name type of mutation - same amino acid, often base change in 3d position of codon tRNA wobble)
Silent mutation
Name type of mutation - changed amino acid (conservative - new amino acid is similar in chemical structure)
Missence mutation
Name type of mutation - change resulting in early stop codon
Nonsense mutation
Name type of mutation - change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein
Frameshift mutation
In prokaryotic replication, is there single or multiple origins of replication
Single origin of replication - continuous DNA synthesis on leading strand and discontinuous (okazaki fragments) on lagging strand
What is the role of primase in prokaryotic replication
Primase makes RNA PRIMER on which DNA polymerase III can initiate replication
Elongates the chain by adding deoxynucleotides to the 3 end until it reaches primer of preceding fragment
DNA polymerase III
Name enzyme that degrades RNA primer
5'-3' exonuclease activity of DNA polymerase I
Has 5'-3' synthesis and proofreads with 3'-5' exonuclease
DNA polymerase III
Create a nick in the helix to relieve supercoils
DNA topoisomerases
Name DNA repair defects
Xeroderma pigmentosum (skin sensitivity to UV light)

Ataxia-telangiectasia (x rays)

Blooms syndrome (radiation)

Fanconis anemia (cross linking agents)
Defective excision repair such as uvr ABC endonuclease. Results in inability to repair thymidine dimers, which form in DNA when exposed to UV light.

Associated with dry skin and with melanoma and other cancers

Inheritance pattern
Xeroderma pigmentosum

Autosomal recessive
In which direction is Dna and RNA synthesized
5'-->3'