Exam 1 Material Flashcards
1
Q
Marfan syndrome
type?
clinical features?
genetic principles?
A
Autosomal dominant
skeletal abnormalities
plietropic, new mutation, high dad age=high de novo mutation risk
2
Q
Prader Willi
type?
clinical features?
genetic principles?
A
Imprinting
Uniparental disomy: maternal UBE3A disomy. no paternal SNRPN
obesity, underdeveloped genitalia
3
Q
familial hypercholesterolemia
type?
clinical features?
genetic principles?
A
Autosomal dominant
LDL receptor deficiency
haplo-insufficiency
4
Q
MI
LDL-1/LDL2 ratio high or low?
Ck-MB vaule?
Severity is a reflection of what ratio?
A
Cell loss disorder
high LDL-1/LDL-2 ratio.
Ck-MB > 3%
severity: % of Ck-MB/total Ck ratio.
5
Q
Camptothecin
Type/Trats
Mechanism of action/Targets?
A
Anti-cancer
inhibits Topoisomerase I
6
Q
Respiratory distress syndrome
L/S ratio not mature?
A
role of phospholipid in surfactant
DPPC deficiency in pre-me babies
L/S ratio: <1.5 NOT mature
7
Q
Azidothymidine (AZT) / Zidovudine
Type?
Treats?
Mechanism of action?
Targets?
A
Anti-viral nucleoside analogue of deoxythymidine. no OH group. triple N instead.
HIV: prolongs life in HIV affected individuals and redce mom to baby transmission by >20%.
incorporated into dsDNA so transcription can’t continue.
Inhibits viral reverse transcriptase so virus
8
Q
Vidarabine Adenosine Arabinoside: araA
Type?
Treats?
Mechanism of action?
Targets?
A
Anti-viral adenosine analogue
Herpes Simplex and Anti-neoplastic (relapsed childhood acute lymphoblasyic lukemia agent)
Planar configuration prevents DNA elongation, yielding premature termination.
Inhibits viral DNA polymerase
9
Q
Cytochalasins
Type?
Treats?
Mechanism of action?
Targets?
A
Fungal product
Treats nothing. this is a fungal infection. stay away.
blocks actin polymerization
inhibits cell movement, promotes apoptoosis
10
Q
Initiation factors
A
aid in the formation of the 30S initiation complex.
11
Q
RNA Pol I
A
transcribes rRNA
12
Q
Fragile X
type?
clinical features?
genetic principles?
A
X-linked Triple repeat CGG
can’t speak, anxiety, temper tantrums.
Anticipation
13
Q
Systemic Lupus erethematosus
type?
clinical info?
symptoms?
A
cell acumulation disorder.
autoantibidies to U1 RNA splisosome component and histone and topoisomerase.
results in fatigue, arthritis, fever, skin rash, kidney problems
14
Q
regions of a prokaryotic gene (transcription)
A
promoter
RNA coding sequence
terminator
15
Q
Mycophenolic acid
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
A
Reversible, uncompetitive inhibitor of inosine monophosphate dehydrogenase
IMP->xanthosine monophosphate->GMP
deprives rapidly proliferating T and B cells of key components of nucleic acids
prevents graft recognition
16
Q
Metaplasia
causes?
clinical features?
Tissues affected?
A
REVERSIBLE change of cell differentiation
Increased risk for dysplasia and neoplasia
resp. epithelium, cervical epithelium (columnar to stratified squamous), esophagus epithelium (stratified squamous to columnar).
17
Q
Dysplasia
causes?
clinical features?
Tissues affected?
A
rapid multiplication of cells, may demonstrate genetic abnormalities
failure of maturation and differentiation: persistent cellular atypia, high nuclear/cytomlasm ratio, large nuclei with dark staining chromatin
cervix and skin
18
Q
Nitroprusside
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
A
Metabolized to NO -> activates guanylyl cyclase
GTP->cGMP
cGMP causes smooth muscle relaxation, platelet aggregation and aids in visual system
vasodilation
19
Q
Trimethoprim
Type of inhibition and which enzyme?
A
inhibits dihydrofolate reductase.
20
Q
MELAS
type?
clinical features?
genetic principles?
A
Mitochondrial
encephalopathy, lactic acidosis, stroke-like episodes
only from mother, heteroplasmy
21
Q
Aplastic Anemia
A
Cell loss disorder
22
Q
5’ fluorouracil
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
A
competitively inhibits thymidylate synthase by being converted into dFUMP
dUMP->dTMP
Given with thymidine to increase toxicity in cancer cells. Incorporated into cancerous mRNA making it more toxic to cancer cells.
Anticancer
23
Q
Novobiocin Courmarin family
Type?
Treats?
Mechanism of action? (target is same as mechanism)
A
Antbiotic
Staph infections and MRSA
Inhibits DNA gyrase
24
Q
Phosphatase
A
Removes one phosphate from 5’ end of RNA
25
protein for extrinsic termination of transcription
What type of cells have it?
Rho
Prokaryotic cells
26
Allopurinol
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
irreversibly inhibits xanthine oxidase
forms uric acid by degrading purines
binds to Molybdenum-sulfide complex in enzyme.
used to limit uric acid production in pts. with gout.
27
VNTR
Slightly longer than SSR. 5-10 base pairs(but maybe hundreds) repeating many times
28
4 enzymes involved in 5' cap in eukaryotes
Phosphatase
Guanylyl transferase
Guanine 7-methyl transferase
2' O-methyl transferase
29
Orotic aciduria
causes?
clinical features?
treatment?
low activities of orotidine phosphate decarboxylase and ortate phosphoribosylatransferase. rare genetic form present in patients who lack both enzymes. can come from pyramidine analog cancer treatments
poor growth, megaloblastic anemia, excretion of large amounts of orotate in urine
dietary uridine to improve anemia and decrease orotate excretion.
30
Roles of RNA Polymerase
Recognize DNA sequence
Helicase activity
Catalyze transcription: RNA synthesis
31
Friedrich ataxia
type?
clinical features?
triple repeat GAA\
heterochromatin formation
32
Taxol
Type?
Treats?
Mechanism of action?
Targets?
Anti-cancer
cancer
makes microtubules keep growing.
arrests cell in Metaphase. leads to apoptosis
33
Xeroderma pigmentosum
type?
clinical features?
genetic principles?
Autosomal Recessive
UV damage makes more severe
variable expression
34
Rb mutation
cancer risk. less tumor supression between G1 and S.
35
Leber hereditary optic neuropathy
type?
clinical features?
genetic principles?
Mitochondrial
progressive blindness around 20-30 years
only from mother
36
Simple Sequence Repeat
Most simple type of repetitive sequence.
2, 3, or 4 base pairs repeated many times.
37
Theophylline
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
inhibits phosphodiesterase
breaks down cAMP
38
Some major differences between Prokaryotic & Eukaryotic Translation
Initiator tRNA
RNA
Translation start site
Transcription and Translation
39
ASO
Procedure?
General use?
Challenges?
Disroders?
15bp (probe) sequences that specifically bind to a single allele of a gene
Identify single nucleotide polymorph/mutation OF A KNOWN MUTATION
Allelic Heterogeneity.
CF and Hemochromatosis
40
Hemophilia A and B
type?
clinical features?
genetic principles?
X-linked recessive
increased bleeding tendency after minor trauma, hemarthrosis, subcutaneous hematoma
allelic heterogeneity, asymmetric X-inactivation; skewed X inactivation,. leads to manifesting heterozygote females. Hemophilia B presents with germline mosaicism
41
Eukaryotic transcriptional promoters
TATA box GC box CAAT box
42
Acylovir
Type?
Treats?
Mechanism of action?
Targets?
Anti-viral guanine analogue
Herpes Simplex Virus and Varicella
activated by viral kinases only present in infected cells.
Viral DNA polymerase. Inhibitor of viral replication.
43
Transmissible spongiform encephalopathy
type?
clinical info?
3 routes of acquiring
Prion disease
brain becomes like a sponge causing dimentia, loss of coordination, and death within 1 year
sporadic, infection, genetic predisposition.
44
Phenylketonuria (PKU)
type?
genetic principles?
Autosomal recessive
loss of function mutations
45
Creutzfelt-Jacob
type?
clinical info?
3 routes of acquiring
name in cows? sheep?
Prion disease
brain becomes like a sponge causing dimentia, loss of coordination, and death within 1 year
sporadic, infection, genetic predisposition.
mad cow or scrapie
46
Zellweger
type?
clinical features?
peroxisomal
defective import of proteins
47
Single Nucleotide Polymorphism
One single base pair changes. Variant found in atleast 1% of population.
48
Chrcot-Marie-Tooth
type?
genetic principles?
Autosomal Dominant
locus heterogenity
49
hepatocellular cancer
clinical features
alpha fetoprotein (AFP) normally found in a fetus)
50
TFIIE
positions RNA polymerase
51
Rett syndrome
type?
clinical features?
genetic principles?
X-linked dominant
affects females more, male lethal.
52
Short Interspersed Nuclear Elements (SINEs)
Short sequences, less than 500 bp. 1.5M times in genome. (10%).
appear to be normal DNA that was reverse-transcribed from RNA with enzymes "stolen" from LINE.
Most common is the Alu sequence. (called that b/c SINES contain sequence recognized by Alu restriction enzyme.
53
Poly-A-polymerase (PAP)
adds approximately 200 A nucleotides to the new 3’ end of the mRNA produced by the cleavage of the 3’ UTR.
54
Neoplasia
causes?
clinical features?
2 main grous?
cell proliferation and growth in absence of external stimulus, variable states of differentiation but commonly fail to reach high level
benign (slow localized growing) and malignant (fast growing w/ chance of spread)
55
G6PD deficiency
type?
clinical features?
X-linked recessive
hemolytic anemia on ingestion
56
bone disease Padget disease or bone tumors
clinical features
increased levels of ALP in serum!!!!!!!
57
Huntington Disease
type?
clinical features?
genetic principles?
Autosomal Dominant
Triple repeat CAG, progressive dementia, loss of motor control
GOF mutations, incomplete but high penetrance, anticipation, more severe from father
58
RFLP
Procedure?
General use?
Challenges?
Disroders?
Digestion of DNA from different individuals may result in patterns of DNA fragments. (Direct detection)
Identify a single nucleotide polymorph/mutation (creation or destruction of restriction site which is recognized by endonuclease with a palindrome)
the procedure is very lengthy and rarely used.
sickle cell anemia and maple cyrip urine disease
59
ASO PCR
Procedure?
General use?
Challenges?
Disroders?
15bp sequences that specifically bind to a single allele of a gene for direct detection
Identify single nucleotide mutation and tri nucleotide repeats.
DMD not able to identify mother. Due to 2 X chromosomes she may appear normal.
Triple expansion disorders
60
Which pathway is involved with smooth muscle?
What 2nd messengers are involved with this pathway?
What is the result?
Gq pathway
Phspholipase C
PIP2
IP3 and DAG
Increase of Ca2+ and activation of PKC
61
Prokaryotic ribosome
70S.
30S and 50S
62
TFIIB
involved with RNA polymerase interactions
Start site recognition of BRE element
63
Cytosine arabinoside (araC). / Cytarabine
Type?
Treats?
Mechanism of action?
Targets?
Cytosine analogue that sterically hinders 3'OH with a 2'OH.
Acurte myeloid lukemia, lymphoma, general cancer
prevents addition of next dNTP leading to chain termination/
planar configuration damages DNA and inhibits DNA polymerase therby preventing replication.
64
Hydroxyurea
Type of inhibition and which enzyme?
Function of enzyme?
End result?
inhibits ribonucleotide diphosphate reductase
converts ribonucleotide to deoxyribonucleotide diphosphate
stops UDP-\>dUDP, ADP-\>dADP, etc.
65
Lesch-Nyhan Syndrome
type?
clinical features?
genetic principles?
X-linked recessive
abnormal B-cell development
locus heterogenity
66
Which enzyme fixes negative supercoils in prokaryotic DNA
Topoisomerase II
67
2' O-methyl transferase
Adds methyl group to 2' O position on next to last base on 5' end.
ONLY FOUND ON SOME MRNA.
68
Vit-D resistant rickets
type?
X-linked dominant
69
Atrophy
causes?
clinical features?
tissues affected?
decr. functional demand, decr. blood supply, loss of innervation, loss of endocrine function, nutritional deficiency, aging
reduction in functional cell mass: both size and function. REVERSIBLE.
testes (in elderly), skeletal muscle, brain, kidney (often due to atherosclerosis cutting off blood flow)
70
Hemochromatosis
type?
clinical features?
genetic principles?
Autosomal Recessive
iron overload. mre severe in males b/c females lose iron through blood in menstruation
loss of function, allelic heterogenity, incomplete penetrance, variable expression, delayed age of onsed
71
Incontinentia pigmenti
type?
clinical features?
genetic principles?
X-linked dominant
affects females more, male lethal.
rash and blisters in early life. hyperpigmentation patches
variable expresivity due to X-inactivation
72
Hyperplasia
causes?
clinical features?
Increased functional demand and hormonal stimulation
increased number of cells affecting: endometrium/prostate, RBC at higher elevation, breast glandular epithelium, uterine enlargement?
73
Angelman Syndrome
type?
clinical features?
genetic principles?
imprinting
Uniparental disomy: paternal SNRPN disomy. no maternal UBE3A.
happy puppet
74
Polyploidy
whole extra sets of chromosomes
ex: Triploids (3N) or tetraploids (4N).
75
Rifampin (Rifamycin)
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic
TB
blocks formation of 1st phosphodiester bond inhibiting prok. transctiption initiation.
prok. RNA polymerase
76
Van der Woude
type?
clinical features?
genetic principles?
Autosomal Dominant
Lip pits, cleft lip and palate
Incomplete penetrance
77
Actinomyosin D (Dactinomyosin)
Type/Treats?
Mechanism of action?
Targets?
Anti-Cancer
intercalates between G/C bases preventing strand separation
replication and transcription inhibitor
78
Cleavage and polyadenylation specificity factor (CPSF)
Binds to the polyadenylation signal (AAUAAA) in the 3’ UTR of the mRNA.
79
Hypertrophy
causes?
clinical features?
increased functional demand and hormonal stimulation
increase in cell size--\>increased organ size w/o incr. cell quantity
80
Chloramphenicol
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic
not widely used. can screw with mitochondria in addition to the bacteria.
inhibits peptitidyl transferase in prokaryotes
pep-trans
81
Array CGH
Procedure?
General use?
Disroders?
Co-hybridization of 2 differently labeled DNAs
Copy number variants, amplifications and deletions (WILL NOT DETECT BALANCED REARRANGEMENTS). Anaylze entire genome
Trisomy 18, Adenomatous Polyposis Coli, Tumor genetics
82
TBP-TATA
subunit of TFIID
Binds TATA box of a gene promoter region
83
Karyotyping
Procedure?
General use?
Challenges?
Disroders?
Dark regions = AT, Light regions = GC.
Large translocations, insertions, deletions.
Cannot detect microdeletions smaller than 5Mb.
Downs
84
Which pathway is involved with the heart?
What 2nd messengers are involved with this pathway?
What is the result?
Gs pathway
Adenylate Cyclase
cAMP
Protein Kinase A
Ca2+ increase
85
SNP Microarray
Procedure?
General use?
Challenges?
Label Gene DNA fragments, hybridizes to DNA spots on microarray slide
Single base pair changes, polymorphisms, point mutations.
Adverse rxn. w/ P450, variations in P450 affects drug treatment... test genotype for allele selected CYP before administration
86
Osteogenesis Imperfecta
type?
clinical features?
genetic principles?
Autosomal Dominant
bone, sclera Blue sclerae. Bone fractures with minimal force
Pleitropic, haploinsufficiency, dominant-negative, variable expression, new mutation
87
Methotrexate (folic acid analogue)
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
Competitively inhibit dihydrofolate reductase
makes tetrahydrofolic acid
cnacer cells become resistant to MTX by amp. of gene for dihydrofolate reductase.
Anti-Cancer. Treats psoriasis, rheumatoid arthritis, neoplastic disease. LUKEMIA!
88
Achondroplasia
type?
clinical features?
genetic principles?
Autosomal dominant
stunting of growth, homozygous lethal.
GOF mutations, new mutation, high dad age=high de novo risk
89
Bromodeoxyuridine
Type of inhibition and which enzyme?
End result?
thymidine analog
anticancer
90
5’mRNA vs. tRNA vs. rRNA methyl cap has important roles in the regulation of mRNA:
Processing
Transport
Translation
91
Parkinson's
cell loss disorder
92
Cyclohexamide
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic
Used in laboratory
inhibits euk. peptitidyl transferase preventing elongation
pep-trans.
93
Didanosine
Type?
Treats?
Mechanism of action?
Targets?
Antiviral nucleoside analogue of deoxyadenosine monophosphate. no 3'OH
HIV
inhibits transcription
Viral reverse transcriptase inhibitor
94
Myotonic dystropy
type?
clinical features?
genetic principles?
Autosomal dominant
cateracts, heart defects, endocrine changes, myotonia
Anticipation, plietropic, expansion in mother
95
Etoposide
Type/Treats?
Mechanism of action/Targets?
Anti-Cancer
Topoisomerase II
96
High serum ALP
causes
bile duct obstruction or bone disease
97
Tay Sachs
type?
clinical features?
Autosomal Recessive
accumulation of GM2 ganglioside, neuron death: brain and spinal cord
lysosomal storage
98
Ethanol abuse
clinical features
serum AST/ALT \>2
lipase/amylase \>2
High ALP
99
Which enzyme fixes positive supercoils in eukaryotic DNA
Topoisomerase I
100
Glomerulonephritis
cell accumulation disorder
101
Which enzyme fixes negative supercoils in eukaryotic DNA
Topoisomerase II
102
Lesch-Nyhan Syndrome
causes?
Clinical features?
it is X-linked Recessive!!!
HGPRT complete deficiency leading to the inability to salvage hypoxanthine or guanine. Results in high PRPP, low IMP&GMP, and high de novo purine synthesis.
excessive uric acid production leading to gout, self-mutilation, involuntary movements, mental retardation, orange crystals in baby diapers due to excess acid in urine.
103
Neurofibromatosis-1
type?
clinical features?
genetic principles?
Autosomal dominant
cafe au-leit spots, neurofibromas, litch nodules, etc.
allelic heterogenity, variable expression, high penetrance, de novo mutation
104
Triflourothymidine
Type of inhibition and which enzyme?
End result?
thymidine analog
anticancer
105
Acetyl-salicyclic acid (Aspirin)
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
irriversibly and competitively inhibits cyclooxygenase
thromboxane synthesis
This blocks COX preventing blood clots from being able to happen.
relieves pain and prevents clots
106
Becker muscular dystrophy
X-linked recessive
like Duchenne but not lethal
107
prostate cancer
clinical features
positive Prostate specific antigen test (PSA)
108
Acute Intermittent porphyria
type?
genetic principles?
Autosomal Dominant
Haplo-insufficiency
109
FISH
Procedure?
General use?
Disroders?
Flourescent labeled probes hybridize partially denatured chromosome spreads
Chromosome-Specific/Gene-Specific probe to identify microscopic deletions, translocations, and duplications.
DeGeorge Syndrome (22Q11), Trisomy 21,
110
Myoclonic epilepsy with ragged red fibers
type?
clinical features?
genetic principles?
Mitochondrial
Affects ATP production
only from mother
111
Prokaryotic transcription promotor site
TTGACA or TATAAT Pribnow Box
112
Acute pancreatitis
causes?
clinical features?
heavy alcohol intake or gallstones
increased serum amylase (alpha-amylase), increased serum lipase (pancreatic lipase).
lipase/amylase ratio \>2 indicates ethanol abuse
113
cDNA Microarray
Procedure?
General use?
Disroders?
What do the colors Red, Green, and Yellow mean?
Isolate RNA, Produce cDNA, Label cDNA to Microarray, Visualize hybridization to comapre
Comparison of gene expression b/t cell or sample tissue. Determines what genes are being expressed in a sample.
Cancers
Red=Overexpression, Green=Underexpression, Yellow=Equal abundance
114
Red-green colorblindness
type?
X-linked recessive
115
folate deficiencies
clinical features
Megaloblastic anemias: low hemoglobin, abnormaly high # megaloblastic cells in bone marrow leading to large, abnormal, immature erythrocytes.
116
X-linked SCIID
genetic patterns?
locus heterogenity
117
Di-isopropyl flourophosphates
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
irreversible inhibitor of acetylcholinesterase
cleaves Ach in polysynaptic junction
blcoks serine from binding with acetyl of Ach, making Ach accumulate
continued muscle contraction and overstimulation of ANS.
YOU DIE! STAY AWAY!
118
Tetracycline
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic 4 ringed structure
Bacterial infection
blocks elongation by blocking aminoacyl-tRNA from A site
30S subunit of complete ribosome
119
Caffeine
Type of inhibition and which enzyme?
Function of enzyme?
inhibits phosphodiesterase
breaks down cAMP
120
Bilary duct obstruction
causes?
measure bile secretion by? (which of the 3 is most specific--indicated by \*\*\* ?)
callstones or tumors (common pancreatic tumor, rare bile duct cancer)
measure bile excretion by ALP\*\*\*, GGT, or conjugated bilirubin
121
Guanylyl transferase
Adds GMP in reverse 5' to 5' linkage
122
Homocistinuria
type?
genetic principles?
Autosomal recessive
loss of function
123
Sickle cell anemia
type?
clinical features?
genetic principles?
Autosomal Recessive
Causes Hb to polymerize
GOF, heterozygote advantage: malaria resistance
124
Diphtheria
Type?
Treats?
Mechanism of action?
Targets?
Toxin.
This treats absolutely nothing. avoid this at all costs
Inactivates EF-2 by ADP ribosylation preventing translocation
Affects protein synthesis
125
Zymogen
an inactive enzyme precursor Activated within an organism into active enzymes
Activation by enzymatic cleavage of peptide bonds
126
Statin
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
Reversible competitive inhibitor of HMG CoA reductase
cholesterol synthesis
competitive mechanism
127
Cholera and ecoli
causes?
clinical features?
ADP ribosylation of Gs-alpha leading to continuously active Gs-alpha
Diarrhea
128
Sanger sequencing
Labeled complimentary Nucleotide Site first nucleotide on bottom, shortest distance from 5'
129
Which enzyme fixes positive supercoils in prokaryotic DNA
DNA gyrase
130
Nirtoglycerin
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
Metabolized to NO -\> activates guanylyl cyclase
GTP-\>cGMP
cGMP causes smooth muscle relaxation, platelet aggregation and aids in visual system
vasodilation
131
Viral infections
cell accumulation disorder
132
Cholera and eColi
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
ADP ribosylates Gsa
causes diarrhea b/c of phosphorylated CFTR channel
133
Congential deafness
type?
genetic principles?
Autosomal recessive
loss of function, gene complementation, locus heterogenity
134
TFIIA
Stabalizes TBP binding to a TATA box
Blocks repressor proteins from binding
135
Stem loop structure
G/C rich region followed by run of U residues
Caused by palindromic regions forming hairpins 7-20 bps long.
136
Limb-girdle muscular dystrophy
calpain 3 gene mutations. new splice site in exon 3. shorter protein. defective protein.
137
Alzheimer's
cell loss brain disorder
affects microtubules.
138
Galactosemia
type?
genetic principles?
Autosomal recessive
loss of function
139
RNA pol III
transcribes tRNA and some snRNA
140
Duchenne muscular dystrophy
type?
clinical features?
genetic principles?
X-linked recessive
lethal before age 30. low reporductive fitness
de novo mutation
141
Lipidoses
type?
clinical features?
genetic principles?
lipid storage disease
lipid droplets accumulate in large amounts and abnormal locations
142
Peptidyltransferase
catalyzes peptide bond formation, transferring the initiating amino acid (or peptide chain) from the P site to the amino acid at the A site
143
Streptomycin (aminoglycoside)
Type?
Treats?
Mechanism of action?
Targets?
Aminoglycoside antibiotic
Bacterial infection
prevents ribosome assembly
binds to 30S subunit
144
TFIIH
Contains a DNA helicase to unwind DNA
Activates RNA polymerase by phosphorylation
145
Phalloidin
Type?
Treats?
Mechanism of action?
Targets?
mushroom Toxin
Stay away. this will kill you. it treats NOTHING
disrupts actin function, binding F-actin more tightly
your liver. then you die of liver failure.
146
Purine nucleoside phosphorylase (PNP) deficiency
causes?
clinical features?
impaired T-cell function
decreased uric acid production and increased purine nucleosides and nucleotides.
147
P53 mutation
cancer risk. less tumor supression between G1 and S.
found in 50% of human cancers.
148
Puromyosin
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic structural analogue to part of aminoacyl tRNA. also euk.
bacteria
premature termination of translation
prok. AND euk. cells
PURE means it stops it before going "all the way"
149
TFIID
distorts DNA helix to recruit other transcription factors
150
cytidine deaminase enzyme
Edits apo B gene expressed in liver and intestines
151
Nalidixic Acid and Ciprofloxicin
Type?
Treats?
Mechanism of action? (target is the same as mechanism)
Quinolone family Antibiotic
Anthrax, UTIs, Respiratory infections
inhibits DNA gyrase
152
beta-thalassemia
abnormal splicing of b-globin gene.
mutations add more splice sites within mRNA making frameshifts or premature STOP codons
153
Guanine 7-methyl transferase
Adds methyl to the 7 position of terminal guanine
154
Insulin Receptor
Tyrosine kinase
155
Bacterial post transcriptional modification
The 5’ and 3’ end of bacterial mRNA are unmodified
156
alpha-1 antitrypsin deficiency
type?
clinical features?
genetic principles?
Autosomal recessive
COPD, emphesyma, lung diseases.
loss of function
157
Breast cancer
type?
clinical features?
genetic principles?
BRCA-1 and BRCA-2 mutation
high risk for breast cancer with incomplete penetrance (95% by age 80) and locus heterogenity
158
Enzymes for The Poly-A Tail
Cleavage and polyadenylation specificity factor (CPSF)
Cleavage stimulating factor F (CstF)
Cleavage factors
Poly-A-polymerase (PAP)
159
Pertussis
causes?
BEING STUPID AND NOT VACCINATING YOUR KIDS
.......also ADP ribosylation of Gi-alpha leadng to continuously inactive Gi-alpha.
160
Colchine
Type?
Treats?
Mechanism of action?
Targets?
Anti-Cancer
Cancer
binds to umpolymerized ends of tubulin
causing breakdown of mitotic spindle and apoptosis
161
MLPA (Multiplex Ligation Dependent probe Amplification
Procedure?
General use?
Disroders?
Only ligated probes will be amplified. Few rounds of amplification are allowed
Detect insertions and Deletions
In DMD: normal female has full peak, carrier females and normal males have 0.5 peak
162
Long Interspersed Nuclear Elements (LINES)
Large numbers in Eukaryotic genome
Make RNA and make DNA drom RNA (reverse transcriptase)
Copy themselves to enlarge the genome.
163
alpha-amanitin
Type?
Treats?
Mechanism of action?
Targets?
Toxin.
This does not treat a single thing. stay away. if you get it you need GI decontamination, penicillin or even liver transplant.
no symptoms, GI,
inhibits RNA pol II (euk)
164
Alkaptonuria
type?
genetic principles?
Autosomal recessive
loss of function mutations
165
Cystic Fibrosis
type?
clinical features?
genetic principles?
Autosomal Recessive
salty skin. F508 mutation
loss of function, allelic heterogenity, compount heterozygote
166
Gout
causes?
clinical features?
treatment?
secondary gout can be brought on by leukemia, HGPRT deficiency, cancer treatment with antimetabolites, or chronic renal insufficiency. Xanthine oxidase messed up!!!
primary gout shows hyperuricemia, acute arthritic joint inflammation. secondary gout is genetic and affects males over 30 mostly. there is MUC accumulation in joint synovial fluid.
Colchicine microtubule inhibitor. inhibits white blood cell movement to joints. OR Allopurinol: noncompetitive inhibition of xanthine oxidase. causes excretion of hypoxanthine and xanthine instead of urate.
167
High serum ALP AND GGT cause
bile ducts blocked or irritated. NOT related to bone damage
168
Chronic pancreatitis
causes?
clinical features?
CF, hyperiacylglycerolemia, years of ethanol abuse
increased serum amylase (alpha-amylase), increased serum lipase (pancreatic lipase).
lipase/amylase ratio \>2 indicates ethanol abuse
169
SCIDS
type?
clinical features?
genetic principles?
Autosomal recessive
buildup of dATP toxic to B and T cell development. Adenosine Deaminase deficiency.
loss of function, locus heterogenity
untreated kids die before age 2. High buildups of dATP in red blood cells. it inhibits ribonucleotide reductase and therefore DNA synthesis.
170
High serum GGT cause
ethanol abuse or medical drugs
171
Aneuploidy
abnormal number of chromosomes
ex: trisomy
172
Linkage Analysis
Procedure?
General use?
Challenges?
Disroders?
Linked to a known marker. Indirect detection
unknown mutations, determining carrier status and probability of inheritance... Allelic heterogeneity
Recombination during meiosis and heterogeneity
Cystic fibrosis, hemochromatosis, NF1
173
RNA pol II
transcries mRNA and some snRNA
174
Cleavage stimulating factor F (CstF)
binds to a GU-rich region located in the 3’ UTR past the point where the 3’UTR is cleaved.
175
Low Copy Repeat
Thousands to hundreds of thousands of base pairs long. Repeated only a couple times or many times.
may cause mispairing during mitosis or meiosis
176
Cleavage factors:
bind to a CA sequence located after the polyadenylation signal and cleaves the mRNA at this location. The small cleaved fragment is degraded and the remaining mRNA is polyadenylated.
177
Retinitis pigmentosa
type?
clinical features?
genetic principles?
Digenetic
visual impairment: rod degeneration
locus heterogenity
178
Pertussis
Type of inhibition and which enzyme?
End result?
ADP ribosylates Gia
causes whooping cough
179
Waardenberg
type?
clinical features?
genetic principles?
PAX3 paternal mutation
hearing loss
locus heterogenity
180
Erythromyosin
Type?
Treats?
Mechanism of action?
Targets?
Antibiotic
Bacterial infection
blocks translocation of translation
binds to 50S subunit
181
Sulfonamides
Type of inhibition and which enzyme?
Function of enzyme?
Mechanism of action?
End result?
Competitively inhibit formyltransferases (dihydropteroate synthetase
synthesizes folic acid into prokaryotes
inhibits synthesis of folic acid, thereby decr. synthesis of NTs needed for DNA replication
Antibiotic
182
Shine Dalgarno sequence
purine rich and resides a few bases 5’ to the start codon
183
Tenofovir
Type?
Treats?
Mechanism of action?
Targets?
Adenosine analogue. no 3'OH. broken ring 2 phosphate rings
HIV
Phosphorylated by host cellular kinases. Competes with adenosine to bind.
Inhibits viral reverse transcriptase.
184
bacterial protein responsible for transcription
Sigma Factor.
185
Supercoils
Side effect of DNA unwinding
186
Identify the junction:
Zona Occludens (Tight Junctions)
187
Identify the junction:
Zona Adherens (Anchoring Junctions)
188
Identify the junction:
Macula Adherens (Desmosomes)
189
Identify the Junction:
Gap Junction
190
Identify the Junction:
Hemidesmosomes
