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Term 1 > Exam 1 Material > Flashcards

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

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2
Q

Prader Willi

type?

clinical features?

genetic principles?

A

Imprinting

Uniparental disomy: maternal UBE3A disomy. no paternal SNRPN

obesity, underdeveloped genitalia

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3
Q

familial hypercholesterolemia

type?

clinical features?

genetic principles?

A

Autosomal dominant

LDL receptor deficiency

haplo-insufficiency

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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.

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5
Q

Camptothecin

Type/Trats

Mechanism of action/Targets?

A

Anti-cancer

inhibits Topoisomerase I

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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

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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

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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

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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

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10
Q

Initiation factors

A

aid in the formation of the 30S initiation complex.

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11
Q

RNA Pol I

A

transcribes rRNA

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12
Q

Fragile X

type?

clinical features?

genetic principles?

A

X-linked Triple repeat CGG

can’t speak, anxiety, temper tantrums.

Anticipation

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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

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14
Q

regions of a prokaryotic gene (transcription)

A

promoter

RNA coding sequence

terminator

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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

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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).

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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

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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

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19
Q

Trimethoprim

Type of inhibition and which enzyme?

A

inhibits dihydrofolate reductase.

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20
Q

MELAS

type?

clinical features?

genetic principles?

A

Mitochondrial

encephalopathy, lactic acidosis, stroke-like episodes

only from mother, heteroplasmy

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21
Q

Aplastic Anemia

A

Cell loss disorder

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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

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23
Q

Novobiocin Courmarin family

Type?

Treats?

Mechanism of action? (target is same as mechanism)

A

Antbiotic

Staph infections and MRSA

Inhibits DNA gyrase

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24
Q

Phosphatase

A

Removes one phosphate from 5’ end of RNA

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25
Q

protein for extrinsic termination of transcription

What type of cells have it?

A

Rho

Prokaryotic cells

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26
Q

Allopurinol

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

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.

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27
Q

VNTR

A

Slightly longer than SSR. 5-10 base pairs(but maybe hundreds) repeating many times

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28
Q

4 enzymes involved in 5’ cap in eukaryotes

A

Phosphatase

Guanylyl transferase

Guanine 7-methyl transferase

2’ O-methyl transferase

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29
Q

Orotic aciduria

causes?

clinical features?

treatment?

A

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.

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30
Q

Roles of RNA Polymerase

A

Recognize DNA sequence

Helicase activity

Catalyze transcription: RNA synthesis

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31
Q

Friedrich ataxia

type?

clinical features?

A

triple repeat GAA\

heterochromatin formation

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32
Q

Taxol

Type?

Treats?

Mechanism of action?

Targets?

A

Anti-cancer

cancer

makes microtubules keep growing.

arrests cell in Metaphase. leads to apoptosis

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33
Q

Xeroderma pigmentosum

type?

clinical features?

genetic principles?

A

Autosomal Recessive

UV damage makes more severe

variable expression

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34
Q

Rb mutation

A

cancer risk. less tumor supression between G1 and S.

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35
Q

Leber hereditary optic neuropathy

type?

clinical features?

genetic principles?

A

Mitochondrial

progressive blindness around 20-30 years

only from mother

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36
Q

Simple Sequence Repeat

A

Most simple type of repetitive sequence.

2, 3, or 4 base pairs repeated many times.

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37
Q

Theophylline

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

inhibits phosphodiesterase

breaks down cAMP

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38
Q

Some major differences between Prokaryotic & Eukaryotic Translation

Initiator tRNA

RNA

Translation start site

Transcription and Translation

A
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39
Q

ASO

Procedure?

General use?

Challenges?

Disroders?

A

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

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40
Q

Hemophilia A and B

type?

clinical features?

genetic principles?

A

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

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41
Q

Eukaryotic transcriptional promoters

A

TATA box GC box CAAT box

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42
Q

Acylovir

Type?

Treats?

Mechanism of action?

Targets?

A

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.

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43
Q

Transmissible spongiform encephalopathy

type?

clinical info?

3 routes of acquiring

A

Prion disease

brain becomes like a sponge causing dimentia, loss of coordination, and death within 1 year

sporadic, infection, genetic predisposition.

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44
Q

Phenylketonuria (PKU)

type?

genetic principles?

A

Autosomal recessive

loss of function mutations

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45
Q

Creutzfelt-Jacob

type?

clinical info?

3 routes of acquiring

name in cows? sheep?

A

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

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46
Q

Zellweger

type?

clinical features?

A

peroxisomal

defective import of proteins

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47
Q

Single Nucleotide Polymorphism

A

One single base pair changes. Variant found in atleast 1% of population.

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48
Q

Chrcot-Marie-Tooth

type?

genetic principles?

A

Autosomal Dominant

locus heterogenity

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49
Q

hepatocellular cancer

clinical features

A

alpha fetoprotein (AFP) normally found in a fetus)

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50
Q

TFIIE

A

positions RNA polymerase

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51
Q

Rett syndrome

type?

clinical features?

genetic principles?

A

X-linked dominant

affects females more, male lethal.

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52
Q

Short Interspersed Nuclear Elements (SINEs)

A

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.

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53
Q

Poly-A-polymerase (PAP)

A

adds approximately 200 A nucleotides to the new 3’ end of the mRNA produced by the cleavage of the 3’ UTR.

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54
Q

Neoplasia

causes?

clinical features?

2 main grous?

A

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)

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55
Q

G6PD deficiency

type?

clinical features?

A

X-linked recessive

hemolytic anemia on ingestion

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56
Q

bone disease Padget disease or bone tumors

clinical features

A

increased levels of ALP in serum!!!!!!!

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57
Q

Huntington Disease

type?

clinical features?

genetic principles?

A

Autosomal Dominant

Triple repeat CAG, progressive dementia, loss of motor control

GOF mutations, incomplete but high penetrance, anticipation, more severe from father

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58
Q

RFLP

Procedure?

General use?

Challenges?

Disroders?

A

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

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59
Q

ASO PCR

Procedure?

General use?

Challenges?

Disroders?

A

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

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60
Q

Which pathway is involved with smooth muscle?

What 2nd messengers are involved with this pathway?

What is the result?

A

Gq pathway

Phspholipase C

PIP2

IP3 and DAG

Increase of Ca2+ and activation of PKC

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61
Q

Prokaryotic ribosome

A

70S.

30S and 50S

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62
Q

TFIIB

A

involved with RNA polymerase interactions

Start site recognition of BRE element

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63
Q

Cytosine arabinoside (araC). / Cytarabine

Type?

Treats?

Mechanism of action?

Targets?

A

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.

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64
Q

Hydroxyurea

Type of inhibition and which enzyme?

Function of enzyme?

End result?

A

inhibits ribonucleotide diphosphate reductase

converts ribonucleotide to deoxyribonucleotide diphosphate

stops UDP->dUDP, ADP->dADP, etc.

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65
Q

Lesch-Nyhan Syndrome

type?

clinical features?

genetic principles?

A

X-linked recessive

abnormal B-cell development

locus heterogenity

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66
Q

Which enzyme fixes negative supercoils in prokaryotic DNA

A

Topoisomerase II

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67
Q

2’ O-methyl transferase

A

Adds methyl group to 2’ O position on next to last base on 5’ end.

ONLY FOUND ON SOME MRNA.

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68
Q

Vit-D resistant rickets

type?

A

X-linked dominant

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69
Q

Atrophy

causes?

clinical features?

tissues affected?

A

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)

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70
Q

Hemochromatosis

type?

clinical features?

genetic principles?

A

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

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71
Q

Incontinentia pigmenti

type?

clinical features?

genetic principles?

A

X-linked dominant

affects females more, male lethal.

rash and blisters in early life. hyperpigmentation patches

variable expresivity due to X-inactivation

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72
Q

Hyperplasia

causes?

clinical features?

A

Increased functional demand and hormonal stimulation

increased number of cells affecting: endometrium/prostate, RBC at higher elevation, breast glandular epithelium, uterine enlargement?

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73
Q

Angelman Syndrome

type?

clinical features?

genetic principles?

A

imprinting

Uniparental disomy: paternal SNRPN disomy. no maternal UBE3A.

happy puppet

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74
Q

Polyploidy

A

whole extra sets of chromosomes

ex: Triploids (3N) or tetraploids (4N).

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75
Q

Rifampin (Rifamycin)

Type?

Treats?

Mechanism of action?

Targets?

A

Antibiotic

TB

blocks formation of 1st phosphodiester bond inhibiting prok. transctiption initiation.

prok. RNA polymerase

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76
Q

Van der Woude

type?

clinical features?

genetic principles?

A

Autosomal Dominant

Lip pits, cleft lip and palate

Incomplete penetrance

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77
Q

Actinomyosin D (Dactinomyosin)

Type/Treats?

Mechanism of action?

Targets?

A

Anti-Cancer

intercalates between G/C bases preventing strand separation

replication and transcription inhibitor

78
Q

Cleavage and polyadenylation specificity factor (CPSF)

A

Binds to the polyadenylation signal (AAUAAA) in the 3’ UTR of the mRNA.

79
Q

Hypertrophy

causes?

clinical features?

A

increased functional demand and hormonal stimulation

increase in cell size–>increased organ size w/o incr. cell quantity

80
Q

Chloramphenicol

Type?

Treats?

Mechanism of action?

Targets?

A

Antibiotic

not widely used. can screw with mitochondria in addition to the bacteria.

inhibits peptitidyl transferase in prokaryotes

pep-trans

81
Q

Array CGH

Procedure?

General use?

Disroders?

A

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
Q

TBP-TATA

A

subunit of TFIID

Binds TATA box of a gene promoter region

83
Q

Karyotyping

Procedure?

General use?

Challenges?

Disroders?

A

Dark regions = AT, Light regions = GC.

Large translocations, insertions, deletions.

Cannot detect microdeletions smaller than 5Mb.

Downs

84
Q

Which pathway is involved with the heart?

What 2nd messengers are involved with this pathway?

What is the result?

A

Gs pathway

Adenylate Cyclase

cAMP

Protein Kinase A

Ca2+ increase

85
Q

SNP Microarray

Procedure?

General use?

Challenges?

A

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
Q

Osteogenesis Imperfecta

type?

clinical features?

genetic principles?

A

Autosomal Dominant

bone, sclera Blue sclerae. Bone fractures with minimal force

Pleitropic, haploinsufficiency, dominant-negative, variable expression, new mutation

87
Q

Methotrexate (folic acid analogue)

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

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
Q

Achondroplasia

type?

clinical features?

genetic principles?

A

Autosomal dominant

stunting of growth, homozygous lethal.

GOF mutations, new mutation, high dad age=high de novo risk

89
Q

Bromodeoxyuridine

Type of inhibition and which enzyme?

End result?

A

thymidine analog

anticancer

90
Q

5’mRNA vs. tRNA vs. rRNA methyl cap has important roles in the regulation of mRNA:

A

Processing

Transport

Translation

91
Q

Parkinson’s

A

cell loss disorder

92
Q

Cyclohexamide

Type?

Treats?

Mechanism of action?

Targets?

A

Antibiotic

Used in laboratory

inhibits euk. peptitidyl transferase preventing elongation

pep-trans.

93
Q

Didanosine

Type?

Treats?

Mechanism of action?

Targets?

A

Antiviral nucleoside analogue of deoxyadenosine monophosphate. no 3’OH

HIV

inhibits transcription

Viral reverse transcriptase inhibitor

94
Q

Myotonic dystropy

type?

clinical features?

genetic principles?

A

Autosomal dominant

cateracts, heart defects, endocrine changes, myotonia

Anticipation, plietropic, expansion in mother

95
Q

Etoposide

Type/Treats?

Mechanism of action/Targets?

A

Anti-Cancer

Topoisomerase II

96
Q

High serum ALP

causes

A

bile duct obstruction or bone disease

97
Q

Tay Sachs

type?

clinical features?

A

Autosomal Recessive

accumulation of GM2 ganglioside, neuron death: brain and spinal cord

lysosomal storage

98
Q

Ethanol abuse

clinical features

A

serum AST/ALT >2

lipase/amylase >2

High ALP

99
Q

Which enzyme fixes positive supercoils in eukaryotic DNA

A

Topoisomerase I

100
Q

Glomerulonephritis

A

cell accumulation disorder

101
Q

Which enzyme fixes negative supercoils in eukaryotic DNA

A

Topoisomerase II

102
Q

Lesch-Nyhan Syndrome

causes?

Clinical features?

A

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
Q

Neurofibromatosis-1

type?

clinical features?

genetic principles?

A

Autosomal dominant

cafe au-leit spots, neurofibromas, litch nodules, etc.

allelic heterogenity, variable expression, high penetrance, de novo mutation

104
Q

Triflourothymidine

Type of inhibition and which enzyme?

End result?

A

thymidine analog

anticancer

105
Q

Acetyl-salicyclic acid (Aspirin)

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

irriversibly and competitively inhibits cyclooxygenase

thromboxane synthesis

This blocks COX preventing blood clots from being able to happen.

relieves pain and prevents clots

106
Q

Becker muscular dystrophy

A

X-linked recessive

like Duchenne but not lethal

107
Q

prostate cancer

clinical features

A

positive Prostate specific antigen test (PSA)

108
Q

Acute Intermittent porphyria

type?

genetic principles?

A

Autosomal Dominant

Haplo-insufficiency

109
Q

FISH

Procedure?

General use?

Disroders?

A

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
Q

Myoclonic epilepsy with ragged red fibers

type?

clinical features?

genetic principles?

A

Mitochondrial

Affects ATP production

only from mother

111
Q

Prokaryotic transcription promotor site

A

TTGACA or TATAAT Pribnow Box

112
Q

Acute pancreatitis

causes?

clinical features?

A

heavy alcohol intake or gallstones

increased serum amylase (alpha-amylase), increased serum lipase (pancreatic lipase).

lipase/amylase ratio >2 indicates ethanol abuse

113
Q

cDNA Microarray

Procedure?

General use?

Disroders?

What do the colors Red, Green, and Yellow mean?

A

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
Q

Red-green colorblindness

type?

A

X-linked recessive

115
Q

folate deficiencies

clinical features

A

Megaloblastic anemias: low hemoglobin, abnormaly high # megaloblastic cells in bone marrow leading to large, abnormal, immature erythrocytes.

116
Q

X-linked SCIID

genetic patterns?

A

locus heterogenity

117
Q

Di-isopropyl flourophosphates

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

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
Q

Tetracycline

Type?

Treats?

Mechanism of action?

Targets?

A

Antibiotic 4 ringed structure

Bacterial infection

blocks elongation by blocking aminoacyl-tRNA from A site

30S subunit of complete ribosome

119
Q

Caffeine

Type of inhibition and which enzyme?

Function of enzyme?

A

inhibits phosphodiesterase

breaks down cAMP

120
Q

Bilary duct obstruction

causes?

measure bile secretion by? (which of the 3 is most specific–indicated by *** ?)

A

callstones or tumors (common pancreatic tumor, rare bile duct cancer)

measure bile excretion by ALP***, GGT, or conjugated bilirubin

121
Q

Guanylyl transferase

A

Adds GMP in reverse 5’ to 5’ linkage

122
Q

Homocistinuria

type?

genetic principles?

A

Autosomal recessive

loss of function

123
Q

Sickle cell anemia

type?

clinical features?

genetic principles?

A

Autosomal Recessive

Causes Hb to polymerize

GOF, heterozygote advantage: malaria resistance

124
Q

Diphtheria

Type?

Treats?

Mechanism of action?

Targets?

A

Toxin.

This treats absolutely nothing. avoid this at all costs

Inactivates EF-2 by ADP ribosylation preventing translocation

Affects protein synthesis

125
Q

Zymogen

A

an inactive enzyme precursor Activated within an organism into active enzymes

Activation by enzymatic cleavage of peptide bonds

126
Q

Statin

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

Reversible competitive inhibitor of HMG CoA reductase

cholesterol synthesis

competitive mechanism

127
Q

Cholera and ecoli

causes?

clinical features?

A

ADP ribosylation of Gs-alpha leading to continuously active Gs-alpha

Diarrhea

128
Q

Sanger sequencing

A

Labeled complimentary Nucleotide Site first nucleotide on bottom, shortest distance from 5’

129
Q

Which enzyme fixes positive supercoils in prokaryotic DNA

A

DNA gyrase

130
Q

Nirtoglycerin

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

131
Q

Viral infections

A

cell accumulation disorder

132
Q

Cholera and eColi

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

ADP ribosylates Gsa

causes diarrhea b/c of phosphorylated CFTR channel

133
Q

Congential deafness

type?

genetic principles?

A

Autosomal recessive

loss of function, gene complementation, locus heterogenity

134
Q

TFIIA

A

Stabalizes TBP binding to a TATA box

Blocks repressor proteins from binding

135
Q

Stem loop structure

A

G/C rich region followed by run of U residues

Caused by palindromic regions forming hairpins 7-20 bps long.

136
Q

Limb-girdle muscular dystrophy

A

calpain 3 gene mutations. new splice site in exon 3. shorter protein. defective protein.

137
Q

Alzheimer’s

A

cell loss brain disorder

affects microtubules.

138
Q

Galactosemia

type?

genetic principles?

A

Autosomal recessive

loss of function

139
Q

RNA pol III

A

transcribes tRNA and some snRNA

140
Q

Duchenne muscular dystrophy

type?

clinical features?

genetic principles?

A

X-linked recessive

lethal before age 30. low reporductive fitness

de novo mutation

141
Q

Lipidoses

type?

clinical features?

genetic principles?

A

lipid storage disease

lipid droplets accumulate in large amounts and abnormal locations

142
Q

Peptidyltransferase

A

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
Q

Streptomycin (aminoglycoside)

Type?

Treats?

Mechanism of action?

Targets?

A

Aminoglycoside antibiotic

Bacterial infection

prevents ribosome assembly

binds to 30S subunit

144
Q

TFIIH

A

Contains a DNA helicase to unwind DNA

Activates RNA polymerase by phosphorylation

145
Q

Phalloidin

Type?

Treats?

Mechanism of action?

Targets?

A

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
Q

Purine nucleoside phosphorylase (PNP) deficiency

causes?

clinical features?

A

impaired T-cell function

decreased uric acid production and increased purine nucleosides and nucleotides.

147
Q

P53 mutation

A

cancer risk. less tumor supression between G1 and S.

found in 50% of human cancers.

148
Q

Puromyosin

Type?

Treats?

Mechanism of action?

Targets?

A

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
Q

TFIID

A

distorts DNA helix to recruit other transcription factors

150
Q

cytidine deaminase enzyme

A

Edits apo B gene expressed in liver and intestines

151
Q

Nalidixic Acid and Ciprofloxicin

Type?

Treats?

Mechanism of action? (target is the same as mechanism)

A

Quinolone family Antibiotic

Anthrax, UTIs, Respiratory infections

inhibits DNA gyrase

152
Q

beta-thalassemia

A

abnormal splicing of b-globin gene.

mutations add more splice sites within mRNA making frameshifts or premature STOP codons

153
Q

Guanine 7-methyl transferase

A

Adds methyl to the 7 position of terminal guanine

154
Q

Insulin Receptor

A

Tyrosine kinase

155
Q

Bacterial post transcriptional modification

A

The 5’ and 3’ end of bacterial mRNA are unmodified

156
Q

alpha-1 antitrypsin deficiency

type?

clinical features?

genetic principles?

A

Autosomal recessive

COPD, emphesyma, lung diseases.

loss of function

157
Q

Breast cancer

type?

clinical features?

genetic principles?

A

BRCA-1 and BRCA-2 mutation

high risk for breast cancer with incomplete penetrance (95% by age 80) and locus heterogenity

158
Q

Enzymes for The Poly-A Tail

A

Cleavage and polyadenylation specificity factor (CPSF)

Cleavage stimulating factor F (CstF)

Cleavage factors

Poly-A-polymerase (PAP)

159
Q

Pertussis

causes?

A

BEING STUPID AND NOT VACCINATING YOUR KIDS

…….also ADP ribosylation of Gi-alpha leadng to continuously inactive Gi-alpha.

160
Q

Colchine

Type?

Treats?

Mechanism of action?

Targets?

A

Anti-Cancer

Cancer

binds to umpolymerized ends of tubulin

causing breakdown of mitotic spindle and apoptosis

161
Q

MLPA (Multiplex Ligation Dependent probe Amplification

Procedure?

General use?

Disroders?

A

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
Q

Long Interspersed Nuclear Elements (LINES)

A

Large numbers in Eukaryotic genome

Make RNA and make DNA drom RNA (reverse transcriptase)

Copy themselves to enlarge the genome.

163
Q

alpha-amanitin

Type?

Treats?

Mechanism of action?

Targets?

A

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
Q

Alkaptonuria

type?

genetic principles?

A

Autosomal recessive

loss of function mutations

165
Q

Cystic Fibrosis

type?

clinical features?

genetic principles?

A

Autosomal Recessive

salty skin. F508 mutation

loss of function, allelic heterogenity, compount heterozygote

166
Q

Gout

causes?

clinical features?

treatment?

A

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
Q

High serum ALP AND GGT cause

A

bile ducts blocked or irritated. NOT related to bone damage

168
Q

Chronic pancreatitis

causes?

clinical features?

A

CF, hyperiacylglycerolemia, years of ethanol abuse

increased serum amylase (alpha-amylase), increased serum lipase (pancreatic lipase).

lipase/amylase ratio >2 indicates ethanol abuse

169
Q

SCIDS

type?

clinical features?

genetic principles?

A

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
Q

High serum GGT cause

A

ethanol abuse or medical drugs

171
Q

Aneuploidy

A

abnormal number of chromosomes

ex: trisomy

172
Q

Linkage Analysis

Procedure?

General use?

Challenges?

Disroders?

A

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
Q

RNA pol II

A

transcries mRNA and some snRNA

174
Q

Cleavage stimulating factor F (CstF)

A

binds to a GU-rich region located in the 3’ UTR past the point where the 3’UTR is cleaved.

175
Q

Low Copy Repeat

A

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
Q

Cleavage factors:

A

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
Q

Retinitis pigmentosa

type?

clinical features?

genetic principles?

A

Digenetic

visual impairment: rod degeneration

locus heterogenity

178
Q

Pertussis

Type of inhibition and which enzyme?

End result?

A

ADP ribosylates Gia

causes whooping cough

179
Q

Waardenberg

type?

clinical features?

genetic principles?

A

PAX3 paternal mutation

hearing loss

locus heterogenity

180
Q

Erythromyosin

Type?

Treats?

Mechanism of action?

Targets?

A

Antibiotic

Bacterial infection

blocks translocation of translation

binds to 50S subunit

181
Q

Sulfonamides

Type of inhibition and which enzyme?

Function of enzyme?

Mechanism of action?

End result?

A

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
Q

Shine Dalgarno sequence

A

purine rich and resides a few bases 5’ to the start codon

183
Q

Tenofovir

Type?

Treats?

Mechanism of action?

Targets?

A

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
Q

bacterial protein responsible for transcription

A

Sigma Factor.

185
Q

Supercoils

A

Side effect of DNA unwinding

186
Q

Identify the junction:

A

Zona Occludens (Tight Junctions)

187
Q

Identify the junction:

A

Zona Adherens (Anchoring Junctions)

188
Q

Identify the junction:

A

Macula Adherens (Desmosomes)

189
Q

Identify the Junction:

A

Gap Junction

190
Q

Identify the Junction:

A

Hemidesmosomes

Term 1 (4 decks)

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