First Aid Biochemistry

Front 1

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

WHat is the diagnosis

Back 1

PKU

Front 2

Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic

WHat is the mechanism

Back 2

NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate

Front 3

2 year old girl has increase in abdominal girth, failure to thrive and skin and hair depigmentation - what is the diagnosis

Back 3

Kwashiorkor

Front 4

Alcoholic develops rash, diarrhea and altered mental status

What is the vitamin defficiency

Back 4

B3 (pellagra)

Front 5

20 year old male presents with idiopathic hyperbillirubinemia

WHat is the most common cause

Back 5

Gilberts syndrome

Front 6

51 year old man has black spots on his sclera and has noted that urine turns black when he is standing

Back 6

Alkaptonuria

Front 7

25 year old complains of chest pains and has xanthoma of Achilles tendon

What is his disease and where is the defect

Back 7

Familial hypercholesterolemia, lDL receptor

Front 8

Condensed by negatively charged DNA looped twice around positively charged H2a, H2b, H3 and H4 histones (nucleosome bead)

Back 8

Chromatin

Front 9

_ ties nucleosomes together in a string (30 nm fiber)

Back 9

H1 histone

Front 10

Condensed, transcriptionally inactive chromatin

Back 10

Heterochromatin

Front 11

Less condensed, transcriptionally active chromatin

Back 11

Euchromatin

Front 12

Name purines

Back 12

A, G

PURe As Gold

Front 13

Name pyrimidines

Back 13

C, T, U

CUT Pye

Front 14

Which nucleotides have two rings?

Back 14

Purines

Front 15

WHich nucleotides have one ring?

Back 15

Pyrimidines

Front 16

Which nucleotide has a ketone

Back 16

guanine

Front 17

Which nucleotide has methyl

Back 17

thymine

Front 18

Deamination of cytosine makes _

Back 18

Uracyl

Front 19

Uracil is found in _

Thymine is found in _

Back 19

Uracil - RNA

Thymine - DNA

Front 20

Which bond is stronger GC or AT

Back 20

GC (3 H bonds), AT is weaker (2 H bonds)

Front 21

If GC content is increased what happens to melting temperature

Back 21

Increases

Front 22

Nucleotides are linked by _

Back 22

3-5 phosphodiesterase bond

Front 23

Substituting purine for purine or pyrimidine for pyrimidine is called ?

Back 23

TransItion (identical)

Front 24

Substituting purine for pyrimidine or vice versa

Back 24

TransVersion (conVersion between types)

Front 25

4 features of genetic code

Back 25

Unambiguous (each codon for only one amino acid)

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

COmmaless, nonoverlapping

Universal

Front 26

Name type of mutation - same amino acid, often base change in 3d position of codon tRNA wobble)

Back 26

Silent mutation

Front 27

Name type of mutation - changed amino acid (conservative - new amino acid is similar in chemical structure)

Back 27

Missence mutation

Front 28

Name type of mutation - change resulting in early stop codon

Back 28

Nonsense mutation

Front 29

Name type of mutation - change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein

Back 29

Frameshift mutation

Front 30

In prokaryotic replication, is there single or multiple origins of replication

Back 30

Single origin of replication - continuous DNA synthesis on leading strand and discontinuous (okazaki fragments) on lagging strand

Front 31

What is the role of primase in prokaryotic replication

Back 31

Primase makes RNA PRIMER on which DNA polymerase III can initiate replication

Front 32

Elongates the chain by adding deoxynucleotides to the 3 end until it reaches primer of preceding fragment

Back 32

DNA polymerase III

Front 33

Name enzyme that degrades RNA primer

Back 33

5'-3' exonuclease activity of DNA polymerase I

Front 34

Has 5'-3' synthesis and proofreads with 3'-5' exonuclease

Back 34

DNA polymerase III

Front 35

Create a nick in the helix to relieve supercoils

Back 35

DNA topoisomerases

Front 36

Name DNA repair defects

Back 36

Xeroderma pigmentosum (skin sensitivity to UV light)

Ataxia-telangiectasia (x rays)

Blooms syndrome (radiation)

Fanconis anemia (cross linking agents)

Front 37

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

Back 37

Xeroderma pigmentosum

Autosomal recessive

Front 38

In which direction is Dna and RNA synthesized

Back 38

5'-->3'