Biochem Genetics 2007
Biochem Genetics 2007
Biochem Genetics 2007
(40 glucose)
They gave him glucagon and his glucose level went up to 175.
a. A. cyclase
b.G. cyclase
c. intranuclear....
d. seronine/theronine kinase activity
e. tyrosine kinase activity
2) Clone protein made more alpha helices in 50% ETOH than in water. Why?
a. competitive hydrogen bond.....
b. ....covalent...
c. hydrophilic interaction
d. no me recuerdo
e.van der waals....
3) Cual es la diferencia mas grande entre el genoma bacteriano y el de los mamiferos? yo puse que el
genoma bacteriano tiene solo una senal para codificar para diferentes procesos, mientras que el de los
mamiferos es individual. De verdad no se si esta bien.
5) Distheria Toxin inhibited Eukaryotic protein synthesis through ADP-ribosylation to which of the
following?
NAD+
IF (initiation factor)
EF (elongation factor)
ATP/ADP
6) Te dan una grafica de enzimas X vs fructosa 2,6 bifosfato y tienes que decir cual es un allosteric
effector.
a)camp
b) ¿?
c) 1,6 bifosfato
d) 2,6 bifosfato
Disminuye el Km fructose 2,6 bifosfato es un positive effector de PFK1
Por si acaso :
9. A 25 y old man with carnitine deficiency experiments fatigue and muscle pain after an aerobic
exercise...
Q factores bioquimicos causan tales sintomas?
ANS: (no se como decia la respuesta correcta pero aki les doy la respuesta segun el libro de Lippincott
4th Edition).
Carnitine deficiencies result in a decreased ability of tissues to use LCFA (long- chain fatty acids) as a
metabolic fuel. Inability to use LCFA for fuel greatly impairs that tissue's ability to synthesize glucose
during a fast.
*Remember that carnitine can be synthesized in the liver and kidney but not in the skeletal or heart
muscle.
10. Que causa un point mutation q causa un "misfolding" en las proteinas a sintetizar?
(no se la respuesta)
11)ATP Synthase uses F1/F0 region. Which ion must cross the Inner Mitochondria Membrane in order
for ATP to be produced? choices where different ions ,
13) A 0.15 kb HindII fragment of DNA is Southern blotted. What can be inferred from the figure :
1. E.coli
2. salmonella
3. P.aeruginosa
4. Bacillis
5. Syaphylococcus
1.2.3.4.5.
X
X
X
Low stringency
1.2.3.4.5.
X
X
X
XX
High stringency
a. P. aeruginosa has two identical copies of gene X. ( Se ven en el mismo sitio los r sites)
b. Gene X of E.coli is more similar to Salmonella than to Bacillis.( no xq tiene diferente restriction site).
c. Gene X of E.coli is identical to Staphylococcus. No, por la misma razon q arriba.
d. Gene X of Bacillis is identical to Salmonella. No, same as above
14) Woman has a high carbohydrate diet with adequate glycogen and fatty acid synthesis. When
she begins a triathlon, fatty acid synthesis stops. This is due to an decrease in :
a. TCA cycle
b. Gluconeogenesis
c. Glycogenolysis
d. Oxidative phosphorylationbajos
e. Pentose phosphate shunt
ANSWER: El pentose pathway baja, lo cual produce bajos niveles de NADP, q es necesario para fatty acid
synthesis.
15) Cystic Fibrous is caused by a gene misfolding. What assists in the degradation of this
malformed gene?
a. CoA
b. CoQ
c. SAM
d. Ubiquitine (right answer)
e. (don't remember)
ANSWER: Ubiquinone con CF es q el receptor esta misfolded and is targeted for detuctioin by
proteosomes and ubiquination.
a. increased translation
b. increased transcription
c. (dont remember)
ANSWER
-Burkitsts Lymphoma is mainly caused by Epstar- Bau viruses.
-El c – myc gene( oncogene) is translocated from a region ( which has normal transcription) to a site in
chromosome 18, which is really heavy in gene transcription ( its translocated to a very strong
promoter). This increases transcription.
-So there’s over production of T lymphocytes due to increased transcription.
D
inton
Coding exon
17) (refer to drawing) The Question asked something like “Where would a change or mutation cause
the most damage” (options A-F)
20. The kinase that activates 2,6 biphos is decreased by: Ans- cAMP
21) Te dan una secuencia de un double stranded DNA y te preguntan cual seria el trascript de RNA que
la usó como modelo...
22) HeLa cells que eran transformadas con un vector viral... Te preguntan cual es el efecto que tiene el
estradiol en los receptores de estrógeno.
24. Un investigador esta estudiando las toxinas de Corynebacterium diphteria, que inhibe la sintesis de
proteinas. La pregunta es: Describe the nature of the post-translational modification/
a. ADP- rybosilation
b. Ionization
c. Phosphorilation
25. A boy with PKU should include in his diet which of the following amino acid?
26. John Doe has hypertriglyceremia his mother died at 45 from a heart attack the disease. The disease
is caused by
a)homozygous HMG CoA def
b) heterozygous HMG CoA def
c) homo lipolysis defect
d)hetero lipoysis defect
28. Initiation of transcription is indicated by which of the following related portions of the diagram.
33. DECIA ALGO SOBRE LOS RECEPTORES DE TIROSINE KINASE Y CUANDO EL HGPRT LLEGA Y SE UNE A
ESOS RECEPTORES LA PREGUNTA ES CON CUAL DE LOS SIGUIENTES SE FORMA UN COMPLEJO? A.
CALCIUM CHANNELSB. FIBRONECTINSC. G- PROTEIND. INTERMEMBRANAL PROTEINE. PROTEIN
SOMETHING
34. UNA MUJER LLEGA A LA SALA DE EMERGENCIA PADECE DIABETES MELLITUS TYPE I INGIRIO MUCHO
CHAMPAGNE TIENE UN ALIENTO CON OLOR A ACETONA. CUAL DE LAS SIGUIENTES ESPERARIAS
ENCONTRAR EN SUS LIVER CELLS? A. NAD/NADHB. NADP/NADPHC. ACIDO LACTICO Y SOMETHING
35. THERE WAS A HUGE DIAGRAM: THE ANSWER IS ENHANCERS. KNOW ABOUT THEM.
36. SOMETHING ABOUT IF A PROTEIN IS SMALLER THAN WHAT ITS SUPPOSED TO BE THEN WHAT KIND
OF MUTATION IS IT. I WAS BETWEEN NONSENSE AND MISSENCE BUT I PUT NONSENSE.
37. Te daban un monton de informacion innecesaria... y terminaban preguntandote que como sabias
que era un competitive inhibitor. Las respuestas eran que si sube o baja Km, sube o baja velocidad; las
caracteristicas generales de las encimas. La respuesta correcta era que el Km subia.
38. Cual es la sustancia que baja la permeadilidad de la membrana celular y sube su flexibilidad?
- las opciones tenia sphingolipids, ionic lipids, phospholipids, cholesterol. La respuesta correcta creo
que es el colesterol (que en mi examen era la opcion a) .
39. A urine sample of a 9 month year old turns dark upon standing. A defect in the metabolism of which
of the following aminoacids is probably the cause:
a) Lysine
b) Tyrosine (correct answer)
c) Proline
d) Valine
40. A mutation in the 30s subunit of a bacterial ribosome would probably interfere with which of the
following:
a) tRNA uploading
b) recognition of AUG initiation codon (correct answer)
c) recognition of termination codon
d) ribosomal translocation
e) peptide formation
42. a mutation of E.coli causes mutation that inhibits the 3’ 5’exonuclease activity . Why
this does not compromise the subsistence of the species?
Unlike DNA en E. coli, el RNA lack proofreading activity. Como este lack del proofreading no
compromete el survival de la especie?
Viruses are more prone to mutations (lack RNA proofreading—repair), these leads to changes in viral
antigens that allow them to avoid immune response. Ex. The antigenic shift of influenza virus leading to
the need for route vaccinations
No pasaba a la progenie
43) Un atleta que corre 100 metros lisos utiliza energia de los musculos proveniente de:
44) Si una mujer se va a de vacaciones a una isla en el Caribe y come grandes cantidades de una fruta
sin madurar. Luego la llevan al hospital porque se puso palida y con mareos. En el hospital le dieron
glucosa y se recupero rapidamente.
Que sistema le fallo a esta mujer? La glycolisis, lipolisis y no recuerdo los demas
46.Empezaba como q con un viejito y decia de una dieta sin carbs. y rica
en proteinas, que se usaria para formar glucosa?
te decia: acetoacetyl, cholesterol, alanina(la escogida), glycerol
47) Cual de los siguientes amino acidos podria ser identificado en una cadena de amino acidos por su
absorbancia a 280nm?
48) El codon que codifica para metionina puede utilizado como codon inicial y como parte de la
cadena del mensaje esto debido a que hay dos de la siguiente estructura:
a. mRNA
c. rRNA
d. 16 s
e. 30s
49. Know the steps of collagen fibril synthesis, especially, what steps that occurs extracellularly.
(BRS p. 30)
50. PTH induces the release of calcium for the absortion of what tissue?
a. stomach
b. intestine
c. kidney
d. liver
e. bone
51. In the liver 7-alpha hydroxylase is a major enzyme in cholesterol... What is the major product in 7-
alpha hydroxylase?
a) Cholic Acid
Sintesis de bile acids a partir de cholesterol: producto final es cholic acid. Para la sintesis bile salts a
partir de cholesterol se anaden grupos hidroxilo a cholesterol, luego se reduce el doble enlace de
cholesterol y se reduce el hydrocarbon chain por 3C's. Finalmente se introduce el grupo carboxilico al
final de la cadena. Resultado: cholic acid.
Enzima 7 alfa hidroxilasa: activada por cholesterol e inhibida por cholic acid
52. The primary step in ammonia (NH3, NH4) synthesis? ( Repasar ciclo amonia)
* Las primeras dos opciones terminaban en renal tubules
Remember: competive inhibitors: Km is increased (less affinity). What can reverse the effect of
the competitor inhibitor is by increasing [S] (but I don’t want that). I would say that the answer is
D, verify.
54. Besides hydrogen bonds, what stabilizes the DNA double helix?
a. histones binding to chromatin
b. negative charges of phosphate groups
c. 2’ to 3’ phosphodiester bonds
d. stacking interactions between base pairs.
55. Nene que se muerde los dedos, tiene niveles altos de uric acid en el serum y la orina. Su hermano
tiene lo mismo. Que deficiencia tiene?
Answer: hypoxanthine-guanine phosphoribosyl transferase (HGPRT). Recuerda el Lesh-Nyhan syndrome
(x-linked).
56. Abuela de 76 anos. Solo come lechuga y arroz, no come carne hace 5 anos y su sistema esta
impared. Que esta ocurriendo?
57- Si hay un "proton leak" en la memb. interna de la mitocondria, Cual de las siguientes aumentara?
a)concentracion de NADH en la mitocondria
b)pH de la mitocondria
c)Protones en la matriz
d)??? ver efecto en sintesis de ATP
....(si se trata de un uncoupler al destruir el gradiente de protones, no se sintetiza ATP y la energia se
mpierde como calor,,,Fiebre.. Estudiar bien este concepto y como se afectan las cant. de
NAD/NADH,,,Protones..y en que lugar de la mitocondria estara c/u de ellos aumentado)
58-Hombre de 45 anos 48 hrs en un viaje, se presenta con severe watery diarrea por las pasadas 12
hrs.,,,Se le detecta contagio con colera,,Cual es el mecanismo de accion de esta toxina (signal
transduction) FOSFORILACION DE CUAL ENZIMA:
a)Se activa prot G, Activa Adenyl ciclasa…etc
b)Fosforilasa
c)canal de Cl en memb. Plasmatica
d)Inositol 1,4,5, Trifosfato
59) Un niño que le dan quimioterapias porque tiene Acute Myelogenous leukemia. En la noche se
despierta con dolor y toma analgesicos para el dolor pero no lo alivia. En la mañana se despierta con
dolor y orina sangre. Estos sintomas son caracteristicos de la degradacion de que cosa?
Amino acidos
Fatty acids
purines
pyrimidines
vitamin C
60) Presentan unos resultados clinicos que muestran glucosa alta y todo lo demas bajo (ketone bodies,
lipidos, etc...) cual enzima esta deficiente?
61.
62. There is a patient with cherry red spots. Que se acumula cuando esta deficiente hexosaminidasa A?
63. In the fetus what happens when there is no activity of "alfa iduronaxil"?
64) 15 year old female, brought into emergency room. Is dehydrated (and other symptoms).
They do a test before and after and put the results in a table ( H+, HCO3, Na+, K+, PCOp, etc…. and
the last thing in the table is that the curve shifts to the left). Why does the curve shift to the left?
a. decrease hemoglobin
b. decrease ???
c. increase pH
d. increase PCOp
65) Distrofia muscular por duplicacion de exones 7 y 9, esto se da por genes alu, el mecanismo
deficiente es:
a. DNA topoisomerasa I
b. DNA topoisomerasa II
c. base excision
d. nucleotide excision
e. La contestacion es la que falta aki…..Cuando vean esta pregunta, no es ninguna de las
opciones que esta aki puesta de la a-d. La contestacion es la que no esta escrita, que no
recuerdo cual era. Disculpen gente….
66. Malate-aspartate shuttle provides reducing agents for: (repasar el mecanismo del shuttle)
a. Citosolic superoxide
b. Citosilic Ions
c. HMGCOa
d. mitochondria NAD
67. The combination of enzymatic activity and exchange of amino groups provide the source of NH3
to the synthesis of amino acids by……..
a. tetra………..
d.production of creatine
69.A 65 year old man show to the physician with a 2 day history of pain and swelling of the great big
toe. Examination of it demonstrated erythematic, swelling and tenderness. Serum show increase in uric
acid. After treatment with a drug progression is notice after 6 hours. que proceso o enzima la droga
inhibe?
a. formation of fibril
b.microtubule proliferation
c. parathyroid production
d.xanthine oxide
71. 71. nina neonata de 36 meses va al hospital a check.. le diagnositcan achondroplasia . Causado por una
mutacion en el cromosoma 4 gen #3 que cambiaba G por A... En cuan de los siguentes pudo haber sido
causada....
cis-acting,
mitochondria
vesiculas
trans-acting
72) lengthy question – asking why/ a in metabolism of a four carbon molecule, why do we have less product in tca?…look for similar ques
in old shelfs. The answer is I think choice D the only one that talks about CO2. Everything else doesn’t make sense.
Just know the reseason why if we start with 4Atp- why we have a net gain of 2…
a. Adenyl Cyclase
b. Guanylanyl Cyclase
c. Phospholypase C
ANSWER: Phospholipasa C catalyzes the formation of two potent second messangers: diacylgycerol and IP3.
1. Hormone binds to a specific receptor
2. The occupied receptor causes GDP-GTP exchange on Gq
3. Gq, with bound GTP, moves to PLC and activates it.
4. Active PLC cleaves phospatidYlinositol 4, 5 biphosphate to IP3 and diaculglycerol.
5.IP3 binds to binds to a specific receptor on the ER , releasing sequestered Ca
6.Diacylglycerol and Ca activate PKC at surface of the plasma membrane
7.Phosphorylation of cellular proteins by protein kinase C produces some of the cellular responses to the hormone.
74. La madre de un nino que le sangra mucho la rodilla y es hemofilico con el factor VIII de coagulacion ausente (el tio y el abuelo del
nene por parte de la madre tambien tienen un historial similar al de el) esta considerando tener otro hijo y va a consultar al medico para
saber cuales son las probabilidades de que el proximo hijo salga con la misma condicion.
75. Esta un hombre, de buena condicion fisica (te dice el peso, estatura, etc.), parado en una fila por cuatro horas. Como esperas que
esten los niveles de ADH (vasopressin), angiotensina II, y aldosterona? El ejercicio provee una tabla condiferentes posibilidades para
cada valor.
Tienes que escojer la opcion que te pone con flechitas que todos los valores aumentan, tanto ADH (antidiuretic hormone), como
angiotensina II, como aldosterona. ADH regulate the body's retention of water, being released when the body is dehydrated; it causes the
kidneys to conserve water (but not salt), concentrating the urine, and reducing urine volume. It also raises blood pressure by inducing
moderate vasoconstriction... por lo tanto aumenta. Angiotensin II causes vasoconstriction, increased blood pressure, and release of
aldosterone from the adrenal cortex... por lo tanto tambien sube igual que la aldosterona.
78) Explain why a point mutation in the sequence of introns causes a phenotypic mutation?
79) What makes proteoglycans a better lubricant and cushioning agents than glycoproteins?
a. Proteoglycans have more N-glycosylation than O-glycosylation
Answer b. Proteoglycans have more negative charges due to their Sulfates.
c. Proteoglycans have more O-glycosylation than N-glycosylation
d. Proteoglycans have the ability to aggregate the monomers.
81) 6 month old boy with a ventricular septum. no other familiars have the disease. What expalins this effect?
82)
H
O
R
M
O
N
E _____________________
Serum Glucose
83) A three month old girl was brought to the emergency room at 11:00 a.m. cause the parents had difficulty rousing her and
feeding her in the last three hours. The day before she had vomit and diarrhea. At the physical exam the baby was unresponsive
and had hepatomegaly. The urinalysis showed cebaic acid, lipoic acid… no ketone bodies were found. She had hypoglycemia. After
I.V. of dextrose the baby starts to respond. What mechanism is affected?
a. Glycine oxidation
b. Lypolisis
c. Leucine oxidation
d. Beta oxidation of fatty acids
84) What is an enhancer? ANS: DNA sequence that could be up or down a stream….
85) In a diet w/o carbohydrates, but rich in proteins, what will be used to form glucose?
ANS: Alaline
86. The presence of high concentration of insulin in a patient with Diabetes Mellitus Type I .....se debe en parte a la falta de induction of
the glucokinase in which organ?
a) Brain
b) heart
c) liver
d) Kidney
Glucokinase es la enzima que convierte glucose en glucose-6P en las celulas hepaticas. Glucokinasa tiene la misma funcion que
hexokinase , pero glucokinase tiene un Km mayor que hexokinase, y funciona solo cuando la concentracion intracellular de glucose en el
hepatocito es elevada como por ejemplo en el periodo seguido luego de una comida rica en carbohidratos , cuando los niveles elevados de
glucose son llevados al higado a traves de la vena portal.
87. What pathway uses a mature erythrocyte(RBC) used to obtain energy is correct?
a) Fatty acids to CO2 + H2O
b) Glucose to Lactate
c) Glycogen to Lactate
d) Ketone bodies to CO2
Los eritrocitos no tienen mitocondria por lo que obtienen su energia de metabolismo anabolico.
Glucosa --- Lactato--------------------------------L-lactate
Lactate dehydrogenase
88. a healthy 40 year old male, height 5'9'' weight 176 lbs, 26 BMI, exercises for one hour. he begins exerceise with the resting
respiratory quotient RQ at 98, he finishes with RQ at .8. what is the relationship between the RQ and the glycogen and fat?
Ans> increased utilization of glycogen and no change in fat
resting q. refers to metabolism measurement in direct relationship to the amount of O 2 consumed and thus glucose is burned and CO2
formed.
89. a 22 year old man loses central vision of his left eye there was no sign of infection or trauma. 3 months later, he loses central vision of
his right eye. his mother and older brothers lost their sight at 35 and 22, respectively. what type of mutation cna cause this condition?
a. tRNA genes
b. Maternal rRNA genes
c. mitochondrial DNA
d. X chromosome from the father
e. X chromosome from the mother
Ans. C
90. infante que solo se esta alimentando de formula tiene problemas con
cysteina y aminoacidos dibasicos... (sorry pero se me olvido el resto ).
aprendanse problemas con a. acids
Las opciones eran:
His, leu, pro, tyr, ser...
92. Cual de los siguientes Ketoacidos provee esqueletos de carbono para amino acidos que transportan dos nitrogenos desde otros tejidos
al liver y kidneys?
94. Old woman with diabetes type 1 use IV insulin 4 times day to have HbA1C = 7.8 % controlled. Several occasions she had suffered
hypoglycemic shocks, which of the following hormones advice her she is having a hypoglycemic shock?
a. glucagon
b. insulin
c. cortisol
d. prolactin
e. ?
f. ?
Answer: Hypoglycemia is related with insulin IV administration side effects of type 1 diabetes to control the hyperglycemia could lead to
hypoglycemic shocks. Too much insulin lowers sugar levels so much that could cause cells lack of sugar uptake and leads to cell damage Cortisol
is a hormone that respond during stress situations vs. glucagon respond during fasting state to normally control glucose levels in blood, also
glucagon is responsible to maintain glucose after an overnight fasting but are not related with stress situations as cortisol does.
Answer: B. is the only one that follows Pauli principle where increase in conc of reactives drive Rxn to products formation. Cannot be choice C.
since equilibrium means 50% conc of both reactives and products and does not contribute to the direction of a reaction. Thus enzymes km could
be affected but enzymes does not affect the equilibrium of a Rxn.
equilibrium conc adp, atp. Also some other test takers mention choice. C as In glucolysis there is 3 irreversible with large G and negative vs
other rxns have a G= 0. In gluconeogenesis this 3 steps are bypassed by a different set of enzymes.
96) 44 y/o man is shipwrecked for 6 weeks. He has normal glucose levels…why?
97) Mutant PKA… does not bind to cAMP. Which body response will be fucked up???
99) Which of the following is the most likely for variable expression of mitochondrial diseases in a
family?
100. The addition of terminal sugar to carbohydrate chain of glicosilated protein occurs in:
a. Endoplasmic reticulum
b.Golgi
c.Lisosomas
d. mitocondria
e.membrana plasmatica
101. A 3 year old boy, with fractures of long bones, bowing and deformities of lower limbs, previous
fractures and osteopenia. He have and unstable collagen type I, this is a single point mutation in gen for
collagen type I. This mutation most likes which of the following amino acid substitution?
a. Ala-Asp
b. Glu-Gln
c. Gly-Glu
d .Tyr-Trp
e. Val-Ala
108. Caso: 14 yr. old boy se presenta a sala de emergencia con quemaduras
en el 30% de la superficie de su cuerpo. Resultados de lab. muestran que el
Nitrogen excretion es mayor que el q se consume. which hormone increase is
responsible for this negative balance?
a. glucagon
b. epinephrine
c. growth hormone
d. Thyroxine (T4)****
Options:
Cholesterol
trygliceride
bilirubin
Among others…..
a) en el medio
b) cerca del 3'
c) cerca del 5'(this is the answer)
d)adjacente al no se q caray
112) 6 month infant with intestine inflammation is under parenteral nutrient supplementation. Omission
of which of the following would render the synthesis of prostacyclins impossible for the infant?
a) Levulinic acid
b) Palmatate acid
c) Eicosanoid acid
d) ??
e)??
114. Ketone bodies in mitochondria of brain can be degraded to CO2 & H2O but not in liver. Cual es la
razon de la diferencia?
Answer: F
117) A 25 year old obese woman is on an extreme diet of low carbs and high fat, what components are
helping to keep adequate glucose in her body? (or something like this)
A. Acetoacetate
B. Cholesterol
C.Glycerol
D.Hydroxibutarate
E. Palmitate (answer)
In response to hormonal signals - for example, the release of insulin or epinephrine - PFK2 and FBPase2
form, or hydrolyze, respectively, the compound β-D-fructose 2,6-bisphosphate, a regulatory molecule
controlling the activity of the enzyme phosphofructokinase-1 or PFK1 (in mammals). PFK1, in turn, is a
key regulatory enzyme in the central metabolic pathway - glycolysis. Fructose 2,6-bisphosphate has the
effect of increasing the activity of PFK1, thus increasing the rate at which the principal food molecule
glucose is broken down. At the same time, this regulatory molecule also inhibits the opposing enzyme
(FBPase1) in the reverse pathway (gluconeogenesis) so that the synthesis of glucose is not taking place
in the same cell where glucose is being broken down (a futile cycle).
120) An obese patient with euglycymia, has an increased plasma concentration of insulin. Which of the
following may be the reason for these findings?
a) Deficient glycolisis enzymes
b) Deficient glucagon enzymes
c) Decreased dietary intake of sugars
d) Tissue resistance to insulin
123- Acetyl COa is diverted from TCA cycle to formation of fatty acids, when
wich of the following is in low concentration?
a- oxaloacetate
b- citrate
c- palminol
d-
124) El tipo estaba janguiando en el desierto y tenia un hambre cabrona y no tenia comida y el anormal
se comio una hoja .... que AA esensencial tiene la hoja..
125. What molecule is responsible for the joining of okazaki fragments by phosphodiester
linkage?
DNA Ligase