Deja Review USMLE 1 Flashcards
1
Q
Which nucleotide bases are purines and which are pyrimidines?
A
“CUT the PY”
Cytosine, Uracil and Thymine = pyrimidines
“PURE as gold (AG)”
Adenine and Guanine are Purines
2
Q
Which proteins make up the core of the nucleosome?
A
Histones: H2A, H2B, H3 and H4
3
Q
Which proteins are associated with DNA between nucleosomes?
A
Histone H1
4
Q
Name the mutation described:
Type of mutation that does not result in a change in amino acid sequence.
A
Silent
5
Q
Name the mutation described:
Type of mutation that results in a change of amino acid sequence
A
Missense
6
Q
Name the mutation described:
Type of mutation that results in a stop codon
A
Nonsense “no sense”
7
Q
Name the mutation described:
Type of mutation that changes the reading frame
A
Frameshift
8
Q
Name the mutation described:
Type of mutation in which a portion of the DNA is lost
A
Deletion
9
Q
Name the mutation described:
Type of mutation in which as single base is exchanged.
A
Point
10
Q
Name the type of cytogenetic disorder described below:
Failure of chromosomes to disjoin properly during cell division.
A
Nondisjunction
11
Q
Name the type of cytogenetic disorder described below:
Loss of a portion of a chromosome
A
Deletion
12
Q
Name the type of cytogenetic disorder described below:
Two internal chromosomal breaks with inverted reincorporation of a portion of the chromosome
A
Inversion
13
Q
Name the type of cytogenetic disorder described below:
Single breaks in two chromosomes resulting in the exchange of segments between chromosomes without loss of genetic material
A
Balanced reciprocal transcription
14
Q
Name the type of cytogenetic disorder described below:
Single breaks in two acrocentric chromosomes resulting in one large chromosome and one small chromosome accompanied by the loss of some genetic information
A
Robertsonian translocation
15
Q
Name the type of cytogenetic disorder described below:
Mitotic error in early development leading to the development of two karyotypically distinct populations of cells in an organism.
A
Mosaicisim
16
Q
What term is used to describe the AT-rich sequences in the genome where DNA replication begins
A
Origin of replication
17
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Stabilize single stranded DNA
A
Single stranded DNA binding proteins
18
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Recognition of AT-rich sequences at the origin of replication and separation of DNA strands.
A
DnaA protein
19
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Unwinding DNA double helix
A
DNA helicase
20
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Prevention of supercoiling during replication.
A
DNA topoisomerases
21
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Placement of RNA primer at site where replication is initiated.
A
Primase, and an RNA polymerase
22
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Removal of RNA primers from DNA synthesized discontinuously.
A
DNA polymerase I (specifically the 5’-3’ exonuclease activity)
23
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
DNA chain elongation in prokaryotes.
A
DNA polymerase III
24
Q
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Proofreading of newly synthesized DNA strand.
A
DNA polymerase III (specifically the 3’-5’ exonuclease activity)
25
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Repair UV damage to DNA
UV-specific endonuclease, exonuclease, and DNA ligase
26
Name the protein(s) involved in replication or DNA repair with the functions listed below:
Removal of damaged bases from DNA
Apurinic or apyrimidinic endonuclease, exonuclease and DNA ligase
27
What term is used to describe the DNA strand synthesized continuously toward the replication fork?
Leading strand
28
What term is used to describe the DNA strand synthesized discontinuously away from the replication fork?
Lagging strand
29
What are the three stop codons?
UGA, UAA, UAG (U Go Away, U Are Away, U Are Gone)
30
In which direction are DNA and RNA synthesized?
5'->3'
31
What is the start codon?
AUG
32
Name the type of RNA responsible for each of the following functions:
Largest RNA molecule
mRNA
33
Name the type of RNA responsible for each of the following functions:
Most abundant type of RNA
rRNA
34
Name the type of RNA responsible for each of the following functions:
Smallest RNA molecule
tRNA
35
Name the type of RNA responsible for each of the following functions:
Portion of RNA transcript encoding information for protein synthesis
Exons
36
Name the type of RNA responsible for each of the following functions:
Portion of RNA transcript that is found between sequences of RNA encoding information for protein synthesis
Introns
37
Name the type of RNA responsible for each of the following functions:
Type of RNA covalently bound to a single amino acid
tRNA
38
Name the type of RNA responsible for each of the following functions:
Name the term used to describe the region of genomic DNA where RNA polymerase and transcription factors bind to regulate transcription.
Promoter
39
Name the type of RNA responsible for each of the following functions:
Name the term used to describe the region of genomic DNA where transcription factors bind to enhance transcription.
Enhancer
40
Name the enzyme responsible for each of the following functions:
Synthesis of mRNA
RNA polymerase II
41
Name the enzyme responsible for each of the following functions:
Synthesis of rRNA
RNA polymerase I
42
Name the enzyme responsible for each of the following functions:
Synthesis of tRNA
RNA polymerase III
43
Name three major regulatory mechanisms of transcription in eukaryotes.
1. Regulation by transcription factors at the level of the promoter
2. Regulation by histones binding to specific genomic regions
3. Regulation of DNA structure (including methylation, gene rearrangement, and amplification)
44
What genetic stmcture regulates
| transcription in prokaryotes?
An operon
45
Name the elements of an operon responsible for each of the following functions:
Region where proteins bind to regulate transcription
Promoter region
46
Name the elements of an operon responsible for each of the following functions:
Molecule that binds at the promoter
Operator
47
Name the elements of an operon responsible for each of the following functions:
Molecule that binds the operator to regulate transcription
Repressor
48
What are three modifications made to an RNA transcript before it leaves the nucleus?
1. 5' Capping with 7-methylguanosinn
2. 3' Polyadenylation
3. Splicing of introns
49
Which small molecule provides the energy for charging a tRNA with its amino acid?
Adenosine triphosphate (ATP)
50
Which small molecule provides the energy for binding tRNA to the ribosome and for translocation?
Guanosine triphosphate (GTP)
51
Which molecules, central to the discipline of molecular biology, recognize and cleave specific sequences of a DNA molecule?
Restriction enzymes
52
Name the molecular biology technique described below:
| Method of separating molecules based on movement through a gel placed in an electric field
Gel electrophoresis
53
Name the molecular biology technique described below:
| Technique for detecting specific DNA sequences using restriction enzymes and a radiolabeled DNA probe
Southern blot
54
Name the molecular biology technique described below:
| Technique for detecting specific RNA sequences using restriction enzymes and a radiolabeled DNA probe
Northern blot
55
Name the molecular biology technique described below:
| Technique for detecting specific protein sequences using radiolabeled antibodies
Western blot
56
Name the molecular biology technique described below:
| A rapid technique for amplifying a specific DNA sequence in vitro
PCR
57
Name the molecular biology technique described below:
| Technique for detecting different alleles at a gene of interest using restriction enzymes
Restriction fragment length polymorphism analysis
58
Name the molecular biology technique described below:
| Technique for detecting the presence of antigen or antibody using radiolabeled antibodies
Radioimmunoassay (RIA)
59
Name the molecular biology technique described below:
| Technique for detecting the presence of antigen or antibody using antibodies linked to enzymes with detectable activity
Enzyme-linked immunosorbent assay (ELISA)
60
Name inheritance pattern described below:
| Twenty five percent of offspring from two carrier parents affected
AR
61
Name inheritance pattern described below:
| Commonly cause defects in structural genes
AD
62
Name inheritance pattern described below:
| Commonly cause defects in enzymes
AR
63
Name inheritance pattern described below:
| Defect seen in multiple generations in both sexes
AD
64
Name inheritance pattern described below:
| Defects not typically seen in consecutive generations
AR
65
Name inheritance pattern described below:
| Disease is not observed in females
X-linked (XL) recessive
66
Name inheritance pattern described below:
| Disease is transmitted by mother
Mitochondrial inheritance
67
Name inheritance pattern described below:
| Half of male offspring from affected mother will manifest disease
XL Recessive
68
Name inheritance pattern described below:
| Disease manifestations commonly present after puberty
AD
69
What are the conditions for a population to be in Hardy-Weinberg equilibrium?
l. No mutation at locus of interest
2. No selection for allele at locus of interest
3. Random mating
4. Closed population (no migration)
70
What are the two Hardy-Weinberg equations?
p2 + 2pq + q2= 1 and p + q = 1
| p and q are separate alleles and pq is the heterozygote frequency
71
Name the disease or condition associated with each of the following statements:
Lack of UV-specific endonuclease causing dry skin and malignant melanoma
Xeroderma pigmentosa
72
Name the disease or condition associated with each of the following statements:
Lack of aldolase B causing hypoglycemia, jaundice, and cirrhosis
Fructose intolerance
73
Name the disease or condition associated with each of the following statements:
Lack of fructokinase causing fructosemia and fructosuria
Essential fructosuria
74
Name the disease or condition associated with each of the following statements:
Lack of galactose-1-phosphate uridyltransferase causing cataracts, hepatosplenomegaly (HSM), and mental retardation
Galactosemia
75
Name the disease or condition associated with each of the following statements:
Deficiency of lactase causing bloating, flatulence, and diarrhea on consumption of dairy products
Lactose intolerance
76
Name the disease or condition associated with each of the following statements:
Lactic acidosis and neurologic deficits in an alcoholic
Pyruvate dehydrogenase deficiency
77
Name the disease or condition associated with each of the following statements:
Hemolytic anemia in patients of Mediterranean descent after eating Java beans
Glucose-6-phosphate dehydrogenase
| deficiency
78
Name the disease or condition associated with each of the following statements:
Hemolytic anemia due to deficiency in glycolysis
Hexokinase, glucose-phosphate isomerase, aldolase, triose-phosphate isomerase, phosphate glycerate
kinase, enolase, or pyruvate kinase deficiency
79
Name the disease or condition associated with each of the following statements:
Inappropriate hepatocellular accumulation of glycogen caused by a deficiency of glucose-6-phosphatase,
associated with severe fasting, hypoglycemia, and impaired fructose metabolism
von Gierke's disease/Type I glycogen storage disease
80
Name the disease or condition associated with each of the following statements:
vonGie;l§§s diseasehypg I
glycogen storage disease
Inappropriate accumulation glycogen in the liver, heart, and muscle caused by a deficiency of lysosomal alpha-1,4-glucosidase, resulting in cardiomegaly
Pompe's disease/type II glycogen storage disease
81
Name the disease or condition associated with each of the following statements:
Inappropriate accumulation of glycogen in liver and heart due to deficiency of alpha-1,6- glucosidase, a debranching enzyme often leading to muscular hypotonia
Cori's disease/typelll glycogen storage disease
82
Name the disease or condition associated with each of the following statements:
Inappropriate accumulation of glycogen in skeletal muscle fibers due to deficiency of glycogen phosphorylase leading to myalgia and myoglobinuria with exercise
McArdle's disease/Type V glycogen storage disease
83
Name the disease or condition associated with each of the following statements:
Defect in cystathione synthase leading to the presence of
homocysteine in the urine
Homocystinuria
84
Name the disease or condition associated with each of the following statements:
Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine
Cystinuria
85
Name the disease or condition associated with each of the following statements:
Inadequate catabolism of branched-chain amino acids (Ile, Val, and Leu) due to lack of a-ketoacid
dehydrogenase leading to mental retardation
Maple syrup urine disease
86
Name the disease or condition associated with each of the following statements:
Lack of phenylalanine hydroxylase leading to a buildup of phenylalanine resulting in mental retardation, hypopigmentation, eczema, and a mousy odor
Phenylketonuria
87
Name the disease or condition associated with each of the following statements:
Lack of homogentisic acid oxidase leading to a buildup of homogentisate causing darkening of the urine and connective tissues
Alkaptonuria
88
Name the disease or condition associated with each of the following statements:
Lack of tyrosinase leading to a lack of melanin
Albinism
89
Name the disease or condition associated with each of the following statements:
Lack of adenosine deaminase inhibits DNA synthesis by causing the accumulation of metabolites in the
purine salvage pathway; one of the causes of severe combined immunodeficiency syndrome
Adenosine deaminase deficiency
90
Name the disease or condition associated with each of the following statements:
Lack of hypoxanthine-guanine phosphoryltransferase (HGPRTase) causing an overproduction of uric acid
leading to neurologic deficits, hyperuricemia, and behavioral abnormalities, including self-mutilation
Lesch-Nyhan syndrome (Lacks Nucleotide Salvage)
91
Name the disease or condition associated with each of the following statements:
Trisomy 21 -> mental retardation, slanted palpebral fissures,
hypertelorism, macroglossia, and multiple visceral anomalies
Downs syndrome
92
Name the disease or condition associated with each of the following statements:
Expansion of unstable region of X chromosome leading to mental retardation, enlarged testes, and craniofacial anomalies
Fragile X syndrome
93
Name the disease or condition associated with each of the following statements:
XL recessive deficiency of a-galactosidase A -> buildup of
ceramide trihexose which causes pain in the extremities, ocular abnormalities, and renal failure
Fabry's disease
94
Name the disease or condition associated with each of the following statements:
AR deficiency of galactosylceramide B-galactosidase leading to cerebral accumulation of galactocerebroside, which causes progressive neurologic degeneration
Krabbe's disease
95
Name the disease or condition associated with each of the following statements:
AR deficiency of B-glucocerebrosidase leading to the accumulation of glucocerebroside in the brain, bone marrow, liver, and spleen -> HSM and neurologic dysfunction
Gaucher's disease
96
Name the disease or condition associated with each of the following statements:
AR deficiency of sphingomyelinase leading to buildup of sphinogmyelin and cholesterol in histiocytes of the
liver, spleen, and lymphatic system resulting in cortical atrophy and HSM
Niemann-Pick disease
97
Name the disease or condition associated with each of the following statements:
AR deficiency of hexosaminidase A leading to the accumulation of GM2 ganglioside within lysosomes resulting in neurologic degeneration and developmental delay
Tay-Sachs disease
98
Name the disease or condition associated with each of the following statements:
AR deficiency of arylsulfatase A leading to an accumulation of sulfated glycolipids and dysfunction and demyelination of the central and peripheral nervous systems
Metachromatic leukodystrophy
99
Name the disease or condition associated with each of the following statements:
XL recessive deficiency of iduronate sulfatase leading to an accumulation of heparan and dermatan sulfate resulting in mental retardation, coarse facial features, and short stature
Hunter's syndrome
100
Name the disease or condition associated with each of the following statements:
AR deficiency of a-L-iduronidase leading to the accumulation of partially degraded glycosaminoglycans within lysosomes resulting in dysmorphic, gargoyle-like facies, corneal clouding, HSM, and skeletal abnormalities
Hurler's syndrome
101
Name the disease or condition associated with each of the following statements:
AR deficiency of UDP-N-acetylglucosamine:
N-acetylglucosaminyl-L-phosphotransferase leading to
defective trafficking of enzymes into lysosomes -> developmental delay and coarse facial features
I-cell disease (mucolipidosis type Il)
102
Name the genetic disease associated with each of the following clinical or pathologic findings:
Cherry red spot of the macula
Tay-Sachs disease and Niemman- Pick disease
103
Name the genetic disease associated with each of the following clinical or pathologic findings:
Cells containing "crinkled paper" cytoplasm and glycolipid-laden macrophages
Gaucher's disease
104
Name the genetic disease associated with each of the following clinical or pathologic findings:
Corneal clouding
Hurler's syndrome
105
Name the major metabolic pathway regulated by the following enzymes:
Citrate synthase
Citric acid cycle
106
Name the major metabolic pathway regulated by the following enzymes:
Phosphofructokinase, pyruvate dehydrogenase
Glycolysis
107
Name the major metabolic pathway regulated by the following enzymes:
Pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-phosphatase
Gluconeogenesis
108
Name the major metabolic pathway regulated by the following enzymes:
Glycogen synthase
Glyconeogenesis
109
Name the major metabolic pathway regulated by the following enzymes:
Glycogen phosphorylase
Glycogenolysis
110
Name the major metabolic pathway regulated by the following enzymes:
Glucose-6-phosphate dehydrogenase
Pentose phosphate pathway
111
Name the major metabolic pathway regulated by the following enzymes:
Acetyl-coenzyme A (CoA) carboxylase
Lipogenesis
112
Name the major metabolic pathway regulated by the following enzymes:
Carnitine acyltransferase
Lipolysis
113
Name the major metabolic pathway regulated by the following enzymes:
HMG-CoA reductase
Cholesterol synthesis
114
Name the major activators and/or inhibitors for each of the following enzymes:
Citrate synthase
Activator: no major activator
Inhibitors: ATR NADH, succinyl-CoA, and acyl-CoA derivatives of fatty acids
115
Name the major activators and/or inhibitors for each of the following enzymes:
Phosphofructokinase
Activator: AMR fructose-2,6-bisphosphate (liver), and fructose-1,6-bisphosphate (muscle)
Inhibitor: citrate, ATR and CAMP
116
Name the major activators and/or inhibitors for each of the following enzymes:
Pyruvate dehydrogenase
Activator: CoA, NAD, ADR and pyruvate
Inhibitor: Acetyl-CoA, NADH, and ATP
117
Name the major activators and/or inhibitors for each of the following enzymes:
Pyruvate carboxylase
Activator: Acetyl-CoA
Inhibitor: ADP
118
Name the major activators and/or inhibitors for each of the following enzymes:
Fructose-1,6-bisphosphatase
Activator: CAMP
Inhibitor: AMP and fructose-2,6-bisphosphate
119
Name the major activators and/or inhibitors for each of the following enzymes:
Glycogen synthase
Activator: glucose-6-phosphate
Inhibitor: no major inhibitor
120
Name the major activators and/or inhibitors for each of the following enzymes:
Glycogen phosphorylase
Activators: cAMP and Ca2+ (muscle)
Inhibitors: glucose, glucose-6-phosphate, and ATP
121
Name the major activators and/or inhibitors for each of the following enzymes:
Glucose-6-phosphate dehydrogenase
Activator: NADP+
Inhibitor: NADPH
122
Name the major activators and/or inhibitors for each of the following enzymes:
Acetyl-CoA carboxylase
Activator: citrate
Inhibitor: malonyl-CoA, palmitoyl-CoA, and cAMP
123
Name the major activators and/or inhibitors for each of the following enzymes:
Carnitine acyltransferase
Activator: no major activator
Inhibitor: malonyl-CoA
124
Name the major activators and/or inhibitors for each of the following enzymes:
HMG-CoA reductase
Activator: no major activator
Inhibitor: cholesterol and cAMP
125
Describe the effect of insulin on the following metabolic processes:
Glycogen synthesis in muscle and liver
Increase
126
Describe the effect of insulin on the following metabolic processes:
Gluconeogenesis in the liver
Decrease
127
Describe the effect of insulin on the following metabolic processes:
Glycogenolysis in the liver
Decrease
128
Describe the effect of insulin on the following metabolic processes:
Glucose uptake in muscle and adipose tissue
Increase
129
Describe the effect of insulin on the following metabolic processes:
Triacylglycerol degradation
Decrease
130
Describe the effect of insulin on the following metabolic processes:
Tracylglycerol synthesis
Increase
131
Describe the effect of insulin on the following metabolic processes:
Protein synthesis
Increase
132
Describe the effect of glucagon on the following metabolic processes:
Glycogenolysis in the liver
Increase
133
Describe the effect of glucagon on the following metabolic processes:
Gluconeogenesis in the liver
Increase
134
Describe the effect of glucagon on the following metabolic processes:
B-Oxidation of fatty acids in the liver
Increase
135
Describe the effect of glucagon on the following metabolic processes:
Amino acid uptake by liver
Increase
136
Which small molecule accepts reducing equivalents and is typically involved in catabolic processes?
NAD+
137
Which small molecule donates reducing equivalents and is typically involved in anabolic processes?
NADPH
138
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Citric acid cycle
Mitochondria
139
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Fatty acid oxidation
Mitochondria
140
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Fatty acid synthesis
Cytosol
141
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Gluconeogenesis
Both
142
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Glycolysis
Cytosol
143
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Heme synthesis
Both
144
```
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Hexose monophosphate (HMP) shunt
```
Cytosol
