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Midterms > Gen > Flashcards

Gen Flashcards

1
Q

Promoter

A

Ex: Tata box

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2
Q

Chargoff’s Rules

A

Relate amounts of bases

dA=dT and dC=dG

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3
Q

Splice donor

A

GU (1st) 5’

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4
Q

Splice acceptor

A

AG (2nd) 3’

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5
Q

Lariat

A

intron spliced out (“A” branch point)

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6
Q
  • RNA Pol I
  • RNA Pol II
  • RNA Pol III
A
  • rRNA
  • mRNA
  • tRNA
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7
Q

Enhancer

A

Can be far ways. Increase the activation of the Pol. Increasing basal level of transcription

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8
Q

Cis regulatory element

A

DNA binding site (on DNA itself)

  • Basal Promoter sequence (TATA BOX)
  • Proximal control regions
  • Enhancer sequence
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9
Q

Trans regulatory element

A

proteins that bind to CIS regulatory elements

- Ex: Transcription factors

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10
Q

Activators

A

Bind to it Enhancers

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11
Q

Regulatory sequence

A

regulates the rates at which transcription of the gene occurs

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12
Q

Extragenic DNA

A
  • juck DNA (less than 2% of DNA coding DNA)

- role in regulation

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13
Q

Tandem Repeats

A

Setellite, Minisatellite (telomeric, Hypervariable), Microsatellite
(VNTR and STR)

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14
Q

Insterspersed

A

SINE and LINE (50% of genes)

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15
Q

Area of gene density

A

Subtelomeric region

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16
Q

VNTR and STR

A
  • Tandem repeats, inherited in co-dominent

- fingerprinting

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17
Q

SINE

A
  • <500bp
  • 10%
  • Alu
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18
Q

LINE

A
  • 6000bp

- have reverse transcriptase (Transposable elements)

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19
Q

Pseudogenes

A

genes that are not expressed

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20
Q

P arm

q arm

A
  • short arm

- long arm

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21
Q

Metacentric Chromosome

A

Centromere in center

- Chrom 1

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22
Q

Submetacentric Chromosome

A

Centromere off to one side

- Chrom 4

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23
Q

Acrocentric Chromosome

A

Centromere near the end

- Chrom 13, 14,15,21,22

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24
Q

Uniparental disomy

A

Both pairs of Chromosomes from one parent

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25
Q

X- inactivation gene

A 
XIST gene (Xic)
- not entirely inactive
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26
Q

Imprinting

A
  • gene being methylated (inactive)
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27
Q

Huntingtion’s Gene

A
  • Chromosome 4p
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28
Q

Labile Cells

A

Multiply throughout life (epitheial cells)

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29
Q

Stable Cells

A

Go phase, can divide if appropriately stimulated

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30
Q

Permanent Cells

A

Permanently in Go phase

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31
Q

Quenching

A

Repressor binds to the DNA-binding domain

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32
Q

Blocking

A

Repressor binds to the Activation domain

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33
Q

Response element

A

a short sequences of DNA within a gene promoter region that are able to bind a specific transcription factor and regulate transcription of genes

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34
Q

Dicer enzyme

A

turns double stranded RNA to ssRNA

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35
Q

Charcot-Marie Tooth

A
  • Autosomal Dominant

- Locus Heterogeneity

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36
Q

Familial Hypercholesterolemia (LDL receptor deficiency)

A

-Autosomal Dominant

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37
Q

Huntington Disease

A
  • Autosomal Dominant
  • Tripple repeat expansion (CAG) [50 late onset, 100 early onset]
  • Late onset (age-dependent penetrance
  • Gain-of-function
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38
Q

Myotonic dystophy

A
  • Autosomal Dominant
  • Tripple repeat expansion (CTG)
  • DMPK gene*
  • Wasting of muscle, cataracts, heart conduction defect,endocrine changes, and myotonia
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39
Q

Marfan syndrome

A
  • Autosomal Dominant
  • Pleiotropy
  • HOT SPOT
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40
Q

Osteogenesis Imperfecta

A
  • Autosomal Dominant
  • Dominant-negative
  • Variable expression
  • Pleiotropy
  • Locus Heterogeneity (Chro 17 {COL1A1} Chro 7{COL1A2})*
  • HOT SPOT
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41
Q

Achondroplasia

A
  • Autosomal Dominant
  • FGFDR3 gene*
  • homo, not compatible with life (2/3)
  • Gain of function
  • HOT SPOT (FGFR3) (80% new mutations)
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42
Q

Neurofibromatosis Type 1

A
  • Autosomal Dominant
  • NF-1 gene*
  • Allelic heterogeneity (compound hertrozygous)
  • Variable expressivity
  • cafè- au-lait spots, neurofibromas, litchi nodules in eyes
  • HOT SPOT (NF1)
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43
Q

Acute intermittent porphyria

A
  • Autosomal Dominant
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44
Q

Sickle Cell Anemia

A
  • Autosomal recessive

- pseudo-autosomal dominant

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45
Q

Cystic fibrosis

A
  • Autosomal recessive

- Allelic Heterogeneity (most common (delta F508)), N1303K

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46
Q

Phenylketonuria (PKU)

A
  • Autosomal recessive
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47
Q

Tay-Sachs disease

A
  • Autosomal recessive
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48
Q

Congenital desafness

A
  • Autosomal recessive
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49
Q

Hemochromatosis

A
  • Autosomal recessive
  • Delayed age of onset
  • Allelic heterogeneity
  • H63D, S65C, C282Y*,
50
Q

Alkaptonuria

A
  • Autosomal recessive

- Delayed age of onset

51
Q

Homocystinuria

A
  • Autosomal recessive

- Variable expression

52
Q

Galactosemia

A
  • Autosomal recessive
53
Q

SCID

A
  • Autosomal recessive
  • ADA deficiency
  • Locus Heterogeneity
54
Q

MOST ENZYME DIFICIENCEIS

A
  • Autosomal recessive
55
Q

Dystophin disorders

A
  • X-linked Recessive

- HOT SPORT (Dysrophin gene)

56
Q

Glucose-6-phosphate dehydrogenase (G6PD)

A
  • X-linked Recessive
57
Q

Hemophilia A and B

A
  • X-linked Recessive
  • low clotting factor 8
  • Allelic heterogeneity
58
Q

Lesch-Nyhan Syndrome

A
  • X-linked Recessive

- HGPRT*

59
Q

Red-green color blindness

A
  • X-linked Recessive
60
Q

X-linked SCID

A
  • X-linked Recessive
  • SCIDX1* (gamma chain)
  • Locus Heterogenasis
61
Q

Rett Syndrome

A
  • X-linked Dominant
62
Q

Incontinentia Pigmenti

A
  • X-linked Dominant
63
Q

Vitamin D resistant Rickters

A
  • X-linked Dominant
64
Q

Fragile X

A
  • X-linked Dominant

- Triple repeat (CGG) [on FMR1 gene]

65
Q

Various mutations in the SRY genes

A
  • Y-linked
66
Q

H-Y histocompatibility antigen

A
  • Y-linked
67
Q

Hairy ears

A
  • Y-linked
68
Q

Xerdoerma pigmentosum

A
  • autosomal recessive

- Variable expression

69
Q

Optic neuropathy

A

-Mitochondrial

70
Q

MELAS

A

-Mitochondrial

71
Q

MERRF

A

-Mitochondrial

72
Q

Digenic disorders

A
  • Retinitis Pigmentosa

- necessary to have both mutations for the disorder (ROM1 and peripherin)

73
Q

Imprinting

A
  • Methylate to science gene
  • Prader Willie Syndrome(no father loci) (NO SNRPN [15q11-13])*
  • Angelman Syndrome (no mother loci) (NO UBE3A [15q11-13])
74
Q

Triple repeat disorders

A
  • (anticipation) constent repeating of the same three nucleotides the higher the great chance of getting the disorder
  • Friedrich ataxia
75
Q

4 alpha and 2 beta globin genes are on what chrome.

A
  • chromosomes 16(alpha) and 11 (beta)
76
Q

Hemoglobinopathies

A
  • Qualitatitive change, Mutation in nucleotide sequence of globin chain
77
Q

Thalassemia

A
  • QuaNtitative change (number): Decreased or absent globin chain synthesis
78
Q

5-azacytidine and Decitabine

A
  • Demethylating agent
79
Q

Hydroxyurea

A
  • Most commonly used to treat sickle cell anemia
80
Q

Butyrate compounds

A
  • Inhibit histone deacetylation
81
Q

Sickle Cell Trait

A
  • Carrier of sickle cell
82
Q

a-Thalassemia cause…

A
  • Unequal crossing over during homologous recombination
83
Q

Hemoglobin H (HbH) disease

A
  • α-thalassemia, 3 deletions

- hair on end

84
Q

Hb Bart

A
  • Dye at birth, all 4 alpha globins deleted
85
Q

Malformations

A
  • Genetics and environments ( abnormality at initial formation of organ)
  • Single Abnormalities
86
Q

Disruptions

A
  • Disturbances after an organ has been formed
  • Environment (shortened arms or legs resulting form vascular problem)
  • Single Abnormalities
87
Q

Deformations

A
  • Mechanical distortions, (clubfoot)

- Single Abnormalities

88
Q

Dysplasias

A
  • Abnormalities in tissue organization

- Single Abnormalities

89
Q

Sequences

A
  • Cascades of effects

- Multiple Abnormalities

90
Q

Syndromes

A
  • Multiple Abnormalities

- Groups of anomalies, due to single underlying cause

91
Q

Associations

A
  • Where traits coincide more often than expected

- Multiple Abnormalities

92
Q

SHH (Sonic Hedge hog)

A
  • Chromosome 7 (7q36)

- Regulates gene formation

93
Q

IF SHH mutated

A
  • Holoprosenchephaly (HPE3) [savorily varieis]

- Polydactyly [postulated]

94
Q

Hypertelorism (double face)

A
  • over expression of SHH
95
Q

Polydactyly

A
  • Over expression of SHH or mutation in Gli3

- disruption of Hoxd13 gene

96
Q

Holoprosencephaly

A
  • mutation in SHH or Six3 gene (regulator of SHH)
97
Q

Smith- Lemi- Opitz Syndrome

A
  • mutation in 7-dehydroholestrol reductase
98
Q

Gorlin Syndrome (Nevoid basal cell carcinoma)

A
  • Mutation in Patched (PTCH)

- Rib defects

99
Q

Pallister- Hall Syndrome

A
  • Mutation in Gli

- brain tumors, polydactyl

100
Q

Rubinstein-Taybi Syndrome

A
  • Mutation in the CREBBP gene

- broad thumbs and toes, short stature, small head, facial features

101
Q

HOX gene

A
  • Dont change between species
  • Transcription factors
  • Segmentation ( confer identity to individual body segments
102
Q

Cancer and cervical ribs

A
  • mutation in HOX??

- Higher frequency of cancer than general population

103
Q

De La Chapelle Syndrome

A
  • recombination of SRY gene ( XX male)

- infertility, 10% show hypospadias

104
Q

Pure Gonadal Dysgenesis

A
  • XY female, loss of function of SRY GENE
105
Q

Pharmacokinetic Variation

A
  • Variation in proteins involved in drug metabolism or transport
  • Enzymes that catalyze drug metabolism
106
Q

Pharmacodynamic Variation

A
  • Variation in drug targets

potency

107
Q

Butyrlcholinesterase (BChE)

A
  • Breaks down Succinylcholine (fast)
  • Defect in BChE is AUTOSOMAL RECESSIVE*
  • Normal # above 75
    under 20 (homo)
108
Q

N-acetlytransferase 2 (NAT2)

A
  • Breaks down Isoniazid (Acetylation way of metabolization)
  • Autosomal recessive
  • lower then 3 in plasma concentration
109
Q

CYP2D6

A
  • Breaks down antidepressants, antiarhythmics, analgesics
  • Debisoquine(antihypertensive) and sperteine (oxytotic)
  • Autosomal recessive
  • Breaks down: metoprolol, haloperidol, codeine, dextromethorphan, fluoxetine, imipromine, desipromine
110
Q

Thiopurine S-Methyltransferase (TPMT)

A
  • break down method is S-methylation

- 6-mercaptopurine and azathioprine

111
Q

CYP2C9

A
  • Warfarin Breakdown
112
Q

Idiosyncratic

A
  • result from interactions between the drug and a unique aspect of the physiology of the individual patient
113
Q

G6PD

A
  • protects RBC from oxidative injury (NADPH)
114
Q

Malignant Hyperthermia

A
  • fatal genetic disorder of skeletal muscle
  • Autosomal dominant
  • main couse of death due to anesthesia
  • altered control of Ca++ release
  • Ryanodine receptor gene (RYR1)
115
Q
  • Caffeine-Halothane Muscle Contracture Test
  • Halothane Test
  • Caffeine Test
A
  • tests for Malignant Hyperthermia
116
Q

Quantitative trate

A
  • Number of dominance alleles determine phenotype
117
Q

liability

A
  • All factors that contribute to a disease

- Genetic is hight

118
Q

Threshold

A
  • At a certion point in which you will get the illness
119
Q

Concordance

A
  • both twins have the same disorder

- if 100% disorder is genetically determined

120
Q

Discordance

A
  • one twin has the disorder and the other does not

Midterms (4 decks)

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