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FA Biochemistry

First Aid Biochemistry USMLE

QuestionAnswer
Full term neonate of uneventful delivery becomes mentally retarded and hyperactive and has musty odorWHat is the diagnosis PKU
Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemicWHat 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 statusWhat is the vitamin defficiency B3 (pellagra)
20 year old male presents with idiopathic hyperbillirubinemiaWHat 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 tendonWhat 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, GPURe As Gold
Name pyrimidines C, T, UCUT 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 - RNAThymine - 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, nonoverlappingUniversal
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 cancersInheritance pattern Xeroderma pigmentosumAutosomal recessive
In which direction is Dna and RNA synthesized 5'-->3'
Created by: cutlaborcost