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Index
»
USMLE STEP 1
»
Chapter 1
»
Level 1
level: Level 1
Questions and Answers List
level questions: Level 1
Question
Answer
1. DNA loops twice around histone octamer 2. Nucleosome is the histone octamer complex with DNA loops
Characteristics of chromatin structure. What is a nucleosome
Condensed, transcriptionally inactive. high methylation, low acetylation Ej: Barr bodies (inactive X Chromosome)
Characteristics of Heterochromatin
Less condensed, transcriptionally active. --> Euchromatin is Expressed
Euchromatin Characteristics
Represses transcription in DNA --> Methylation makes DNA mute In template strand distingue entre old y new
DNA methylation
Reversibly represses DNA transcription, but can activate it. --> Mostly makes DNA mute
Histone methylation
Relaxes DNA coiling allowing for transcription --> Acetylation makes DNA Active
Histone acetylation
Base + deoxyribose (Sugar)
Que es un NucleoSide?
Base + Deoxyribose + phosphaTe
Que es un NucleoTide?
PURE As Gold --> Adenina y Guanina
Cuáles son las PURINAS?
CUT the PY --> Citosina, uracilo, timina
Cuáles son las PIRIMIDINAS?
Adenina con timina (2 H bonds) y Guanina con citocina (3 H bonds) Crazy Glue
Cómo son las uniones entre las bases nitrogenadas?
1. deaminación 2. deaminación 3. metilación
1. Cómo se sintetiza guanina de adenosina? 2. Cómo se sintetiza uracilo de citocina? 3. Cómo se sintetiza timina de uracilo?
Leflunamide: dihidroorotato deshidrogenasa MTX, TMP, Pyrimethamine: Dihidrofolato reductasa 5-FU: Thymidylate synthase 6-MP: producción de novo de purinas Mycophenolato: inosine monophosphate dehidrogenase Hydoxyurea: ribonucleotide reductase
Qué inhibe Leflunomide, metrotexate, TMP, pyrimethamine, 5-FU, 6-MP, Mycophenolato, hydroxyurea?
Necesaria para degradación de adenosina y deoxiadenosina por lo que aumenta dATP --> tóxico para linfocitos --> Causa SCID
Características de deficiencia de adenosina deaminasa y que hace esta encima?
1. Hipoxantina-Guanina Fosforibosil transferasa (HGPRT) 2. Converts hipoxantina to IMP and guanina GMP. Hay exceso de acido urico y producción de purinas de novo. 3. Hyperuricemia, Gout (orange sand in diaper), Pissed off (aggression, self mutilation), Retardation, disTonia 4. X linked
Características de Lesch-Nyhan syndrome. 1. Enzima deficiente 2. Función 3. Características clínicas 4. Genética
Specific base pairing is usually only required in the first 2 nucleotide position
Cual es la Wobble Hypothesis?
Methionine and tryptophan
Aminoácidos que solo se codifican poor un codon?
Glycine, Aspartate, Glutamine--> GAG
Amino acids necessary for purine synthesis:
Y shaped region along DNA template
Replication Fork
Unwinds DNA template
Helicase
Break in the helix to add or remove supercoils. Irinotecan: topoisomerasa I Etoposide: Topoisomerasa II Fluoroquinolones: prokaryotic topoisomerase II and IV
DNA topoisomerases and inhibitors
Makes an RNA primer para que polymerase III initiate replication
Primase
Elongates leading strand
DNA polymerase III
Degrades RNA primer and replaces with DNA
DNA polymerase I
Joins Okazaki fragments
DNA ligase
Adds DNA to 3' to avoid loss of genetic material
Telomerase
1.Purine to purine or pyrimidine to pyrimidine 2. purine to pyrimidine
Mutations in DNA 1.Transition 2.Transversion
El cambio de nucleotido codifica para la misma proteína
Silent Mutation
Resulting in changed aminoacid. Sickle cell anemia ( glutamic acid --> valine) Nonsense: codifica para un STOP
Missense mutation and example Nonsense
Deletion or insertion of a number of nucleotides not divisible by 3. Causes misreading Duchenne, Tay-Sachs
Frameshift mutation and example
Mutation at a splice site
Splice site
Example of a genetic response to an environmental change En E.coli cuando hay cambio de sustrato de alta glucosa a alta lactosa.
Lac operon