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FBS2 Flashcards

(70 cards)

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1
Q

meiosis summary

A
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2
Q

epithelium layers

A
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3
Q

types of epithelium layers

A
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4
Q

Klinefelter Syndrome

A

XXY (with an extra X), but are males

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5
Q

X-linked recessive disorders

A

Hemophilia A: Factor VIII (F8) protein, blood clot impaired.

Red-Green color blindness (deuteranope)

G6PD Deficiency (Favism): RBC rupture, enzyme activity from class I ~ class III: <1%; <10%; 10-60%,

Duchenne (DMD) and Becker muscular dystrophy (BMD): DMD is worse, with a lack of dystrophin protein

Lesch-Nyhan: neurological, behavior disorder due to HRPT gene mutation. Pt exhibit self-harm and over-caffeined

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6
Q

X-linked dominant disorders

A

dominant hypophosphatemia rickets: (low phosphate in blood) causes hypophosphatemia rickets

Also include Rett syndrome
Fragile x

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7
Q

Fragile X syndrome (x-linked disorder) (Dominant)

A

mutated FMR1 -> no FMRP, causes reduced IQ (nervous system), and broad forehead, large ears, hyper-extensible joints, enlarged testicles, and reduced muscle tone.(premutation vs fullmutation)

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8
Q

Y-linked disorder

A

Swyer Syndrome: mutation in SRY gene of Y chromosome, exhibit female reproductive characteristics.

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9
Q

intrinsic error vs extrinsic error

A

intrinsic error: Anencephaly (gene mutation)
extrinsic error: amniotic bands and club feet (environmental impact)

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10
Q

association vs sequence vs syndrome group of anomalies

A

association: no presumed cause
sequence: dominos effect
syndrome: can be caused by a single etiologic agent

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11
Q

Vacterl association

A

Association group

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12
Q

Agenesis vs Aplasia vs Atresia vs Dysplasia

A

Agenesis: complete absence of an organ
Aplasia: absence of an organ due to lack of development
Atresia: absence of opening
Dysplasia: abnormal organization

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13
Q

baby deveoplment

A
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14
Q

which two amino acids have only one codon

A

methionine and tryptophan

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15
Q

STOP codons

A

UAG, UGA, UAA

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16
Q

synonymous SNP vs non-synonymous SNP

A

synonymous SNP does not alter the amino acid

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17
Q

isoacceptor tRNAs

A

most amino acids have more than one isoacceptor tRNAs

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18
Q

two non-canonical amino acids

A

pyrrolysine found in the archaeal family Methanosarcinacea, and selenocysteine (Sec) uses the stop codon UGA but must be activated by selenocysteine insertion sequence (SECIS)

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19
Q

autosomal dominant inheritance

A

also include hypercholesterolemia, and lynch syndrome

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20
Q

autosomal recessive inheritance

A

also include xeroderma pigmentosum, sickle cell disease

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21
Q

Pleiotropy, genetic heterogeneity, polygenic, epistasis

A
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22
Q

eczema

A

due to lack of claudin-1 (more permeable to ions)

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23
Q

Xeroderma Pigmentosum

A

loss of polymerase n (eta) function, autosomal recessive

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24
Q

approved drugs that target DNA replication

A
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25
Pemphigus Vulgaris (PV)
Desmosomes. IgG antibodies binding desmogleins, causing the keratinocytes to fall apart (acantholysis)
26
Charcot-Marie-tooth disease
gap junction. x linked, caused by mutation in GJB1gene encoding connexin32 (myelin)
27
Bullous pemphigoid
loss of function of integrins (hemidesmosomes)
28
arginine-glycine-aspartic acid (RGD motif)
integrin-binding motif on target ligands: incl. Fibronectin, Thrombospondin, some laminins
29
anoikis
epithelial cell detach and die
30
cri-du-chat
Deletion of chromosome 5, p arm
31
Most common mismatches in replication:
GG, GT, AC
32
Leber hereditary optic neuropathy (complex I)
Mitochondria missense mutation to MT-ND1, MT-ND4, MT-ND4L, and MT-ND6
33
Mitochondrial Complex III Deficiency
Mitochondria mutation to MT-CYB, causes muscle weakness during exercise (cytochrome b)
34
Cytochrome c Oxidase Deficiency
Mitochondria mutation in MT-CO1, MT-CO2, MT-CO3 (complex IV deficiency).
35
Leigh Syndrome
Mitochondria mutation in MT-ATP6 (complex V), causes brain disorder in children.
36
Nonsyndromic Deafness
Mitochondria mutation in MT-RNR1 gene encodes the 12S rRNA, while the MT-TS1 gene encodes the tRNA for Serine.
37
Kearns-Sayre Syndrome
single large deletions ranging from 1,000 to 10,000 nucleotide, primarily affects the eyes (not inherited)
38
Friedreich’s Ataxia
due to a genetic alternation of the NUCLEAR Frataxin gene, neurodegenerative disease
39
mitochondrial depletion syndromes (Alper's disease)
mitochondrial genome becomes damaged leading to the depletion of mitochondria
40
Heteroplasmy vs. Homoplasmy of mitochondria
Homoplasmy: all mtDNA normal or abnormal Heteroplasmy: normal and abnormal co-exist
41
FINER for research question
Feasible, Interesting, Novel, Ethical, Relevant
42
Three types of outcomes in research Patient-centered outcomes Surrogate outcomes Composite outcomes
Patient-centered outcomes: direct, what patients can feel Surrogate outcomes: blood test, tumor size Composite outcomes: bundle multiple outcomes together to detect meaningful differences
43
relative risk ratio λr
λr number is equivalent to how many times more risk the patient have
44
open spina bifida/open neural tube defects (ONTD) can be screen with alpha fetal protein (AFP), can be treated with folic acid (VitB)
True
45
Power equation (relation to type II error: β )
power = 1- β
46
Effect modification vs cofounding
Confounding: A third variable makes it look like there’s a relationship between the independent variable (exposure) and the dependent variable (outcome), when really the third variable is the true cause. Effect Modification: A third variable changes the strength or direction of the relationship between exposure and outcome.
47
positive assortative mating vs negative assortative mating
positive assortative mating : couple’s phenotype for specific traits are alike, increase two homozygous groups, and decrease heterozygous group. OPPOSITE for negative assortative mating
48
genetic drift vs genetic flow
genetic drift: random events lead to gene frequencies genetic flow: migration
49
Sanger sequencing
used for shorter DNA sequences. When you want to know the mutation for a specific gene
50
Next Generation Sequencing (second generation sequencing)
read the sequence as it is synthesized, all the sequences are read simultaneously
51
Third Generation (also called "real time") Sequencing
allow the reading of nucleotide sequences at level of a single molecule, extremely fast and cost-efficient
52
Targeted Gene Panels
PCR amplify subset of the patients genome based on symptom, then compare with the gene library.
53
Exome and Whole Genome Sequencing
prevent the limitation of targeted gene panels, where disease may be completely unknown
54
PCR vs Hybridization (Southern vs Northern) vs chromosome visualization (FISH and karyotyping) vs Chip microarrays vs ( array CGH and SNP arrays)
PCR: detecting epigenetic modifications, uniparental disomy, repeat expansions, sequence insertions/deletions (usually needs to be >5-10 bps in size difference). Hybridization: detecting size differences at known loci, repeat expansion diseases, gene deletions/additions that are too big to see by PCR, protein alterations/modifications (Westerns). (Northern is for RNA) (Southern is for DNA) Chromosome visualization (FISH and karyotyping): detecting chromosome-level changes like aneuploidy, and known large alterations like gene amplifications and translocations. Chip microarrays: fluorescently labeled array CGH and SNP arrays: copy number variations (array CGH and SNP arrays), identifying sets of known disease markers for complex disease (SNP array), uniparental disomy (SNP array), larger insertions/deletions (SNP array).
55
RT-PCR vs qRT-PCR
both measure mRNA, but qRT-PCR is rapid, extremely sensitive and highly quantitative. (measure rate of duplication)
56
Non-Invasive Prenatal Testing
Measure risk of polyploidy.
57
Molecular therapies vs Gene replacement therapy vs Augmentation vs Genome editing
58
Three types of oligonucleotide treatments.
59
"vector" in gene therapy
deliver transgene to the right place
60
"in situ" in gene therapy
when transgene via vector is targeted to an organ
61
ex vivo methods
when tissue is first removed, then we hope the treated cell recover with normal function
62
gammaretroviruse vs lentivirus.
Both are retrovirus (act as vector for gene therapy). Gammaretroviruse targets non-dividing cells. Lentivirus target both non-dividing and dividing cells.
63
antigenic drift vs antigenic shift
drift is small change in virus, shift is large change (when immune system before can't even recognize)
64
gram positive rod
Bacillus, Clostridium, Corynebacterium, Listeria
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gram positive cocci (3)
Staphylococcus, Streptococcus, Enterococcus
66
gram negative cocci
Neisseria , Moraxella
67
oddball:
Mycobacterium, Borrelia, Treponema, Mycoplasma
68
fluoroquinolone class of antibiotics
inhibit bacterial DNA replication process
69
Many bacterial mRNA are polycistronic
meaning there are multiple open reading frames present on a single mRNA and thus multiple distinct proteins are made from a single mRNA.
70
lysogenic conversion
transferred genetic material (phage DNA, bacterial DNA, or a combination of phage and some bacterial DNA), acquisition of a new property by a bacterium due to newly integrated bacteriophage DNA
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