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Gen Flashcards

(120 cards)

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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
X- inactivation gene
``` XIST gene (Xic) - not entirely inactive ```
26
Imprinting
- gene being methylated (inactive)
27
Huntingtion's Gene
- Chromosome 4p
28
Labile Cells
Multiply throughout life (epitheial cells)
29
Stable Cells
Go phase, can divide if appropriately stimulated
30
Permanent Cells
Permanently in Go phase
31
Quenching
Repressor binds to the DNA-binding domain
32
Blocking
Repressor binds to the Activation domain
33
Response element
a short sequences of DNA within a gene promoter region that are able to bind a specific transcription factor and regulate transcription of genes
34
Dicer enzyme
turns double stranded RNA to ssRNA
35
Charcot-Marie Tooth
- Autosomal Dominant | - Locus Heterogeneity
36
Familial Hypercholesterolemia (LDL receptor deficiency)
-Autosomal Dominant
37
Huntington Disease
- Autosomal Dominant - Tripple repeat expansion (CAG) [50 late onset, 100 early onset] - Late onset (age-dependent penetrance - Gain-of-function
38
Myotonic dystophy
- Autosomal Dominant - Tripple repeat expansion (CTG) - DMPK gene* - Wasting of muscle, cataracts, heart conduction defect,endocrine changes, and myotonia
39
Marfan syndrome
- Autosomal Dominant - Pleiotropy - HOT SPOT
40
Osteogenesis Imperfecta
- Autosomal Dominant - Dominant-negative - Variable expression - Pleiotropy - Locus Heterogeneity (Chro 17 {COL1A1} Chro 7{COL1A2})* - HOT SPOT
41
Achondroplasia
- Autosomal Dominant - FGFDR3 gene* - homo, not compatible with life (2/3) - Gain of function - HOT SPOT (FGFR3) (80% new mutations)
42
Neurofibromatosis Type 1
- Autosomal Dominant - NF-1 gene* - Allelic heterogeneity (compound hertrozygous) - Variable expressivity - cafè- au-lait spots, neurofibromas, litchi nodules in eyes - HOT SPOT (NF1)
43
Acute intermittent porphyria
- Autosomal Dominant
44
Sickle Cell Anemia
- Autosomal recessive | - pseudo-autosomal dominant
45
Cystic fibrosis
- Autosomal recessive | - Allelic Heterogeneity (most common (delta F508)), N1303K
46
Phenylketonuria (PKU)
- Autosomal recessive
47
Tay-Sachs disease
- Autosomal recessive
48
Congenital desafness
- Autosomal recessive
49
Hemochromatosis
- Autosomal recessive - Delayed age of onset - Allelic heterogeneity - H63D, S65C, C282Y*,
50
Alkaptonuria
- Autosomal recessive | - Delayed age of onset
51
Homocystinuria
- Autosomal recessive | - Variable expression
52
Galactosemia
- Autosomal recessive
53
SCID
- Autosomal recessive - ADA deficiency - Locus Heterogeneity
54
MOST ENZYME DIFICIENCEIS
- Autosomal recessive
55
Dystophin disorders
- X-linked Recessive | - HOT SPORT (Dysrophin gene)
56
Glucose-6-phosphate dehydrogenase (G6PD)
- X-linked Recessive
57
Hemophilia A and B
- X-linked Recessive - low clotting factor 8 - Allelic heterogeneity
58
Lesch-Nyhan Syndrome
- X-linked Recessive | - HGPRT*
59
Red-green color blindness
- X-linked Recessive
60
X-linked SCID
- X-linked Recessive - SCIDX1* (gamma chain) - Locus Heterogenasis
61
Rett Syndrome
- X-linked Dominant
62
Incontinentia Pigmenti
- X-linked Dominant
63
Vitamin D resistant Rickters
- X-linked Dominant
64
Fragile X
- X-linked Dominant | - Triple repeat (CGG) [on FMR1 gene]
65
Various mutations in the SRY genes
- Y-linked
66
H-Y histocompatibility antigen
- Y-linked
67
Hairy ears
- Y-linked
68
Xerdoerma pigmentosum
- autosomal recessive | - Variable expression
69
Optic neuropathy
-Mitochondrial
70
MELAS
-Mitochondrial
71
MERRF
-Mitochondrial
72
Digenic disorders
- Retinitis Pigmentosa | - necessary to have both mutations for the disorder (ROM1 and peripherin)
73
Imprinting
- Methylate to science gene - Prader Willie Syndrome(no father loci) (NO SNRPN [15q11-13])* - Angelman Syndrome (no mother loci) (NO UBE3A [15q11-13])
74
Triple repeat disorders
- (anticipation) constent repeating of the same three nucleotides the higher the great chance of getting the disorder - Friedrich ataxia
75
4 alpha and 2 beta globin genes are on what chrome.
- chromosomes 16(alpha) and 11 (beta)
76
Hemoglobinopathies
- Qualitatitive change, Mutation in nucleotide sequence of globin chain
77
Thalassemia
- QuaNtitative change (number): Decreased or absent globin chain synthesis
78
5-azacytidine and Decitabine
- Demethylating agent
79
Hydroxyurea
- Most commonly used to treat sickle cell anemia
80
Butyrate compounds
- Inhibit histone deacetylation
81
Sickle Cell Trait
- Carrier of sickle cell
82
a-Thalassemia cause...
- Unequal crossing over during homologous recombination
83
Hemoglobin H (HbH) disease
- α-thalassemia, 3 deletions | - hair on end
84
Hb Bart
- Dye at birth, all 4 alpha globins deleted
85
Malformations
- Genetics and environments ( abnormality at initial formation of organ) - Single Abnormalities
86
Disruptions
- Disturbances after an organ has been formed - Environment (shortened arms or legs resulting form vascular problem) - Single Abnormalities
87
Deformations
- Mechanical distortions, (clubfoot) | - Single Abnormalities
88
Dysplasias
- Abnormalities in tissue organization | - Single Abnormalities
89
Sequences
- Cascades of effects | - Multiple Abnormalities
90
Syndromes
- Multiple Abnormalities | - Groups of anomalies, due to single underlying cause
91
Associations
- Where traits coincide more often than expected | - Multiple Abnormalities
92
SHH (Sonic Hedge hog)
- Chromosome 7 (7q36) | - Regulates gene formation
93
IF SHH mutated
- Holoprosenchephaly (HPE3) [savorily varieis] | - Polydactyly [postulated]
94
Hypertelorism (double face)
- over expression of SHH
95
Polydactyly
- Over expression of SHH or mutation in Gli3 | - disruption of Hoxd13 gene
96
Holoprosencephaly
- mutation in SHH or Six3 gene (regulator of SHH)
97
Smith- Lemi- Opitz Syndrome
- mutation in 7-dehydroholestrol reductase
98
Gorlin Syndrome (Nevoid basal cell carcinoma)
- Mutation in Patched (PTCH) | - Rib defects
99
Pallister- Hall Syndrome
- Mutation in Gli | - brain tumors, polydactyl
100
Rubinstein-Taybi Syndrome
- Mutation in the CREBBP gene | - broad thumbs and toes, short stature, small head, facial features
101
HOX gene
- Dont change between species - Transcription factors - Segmentation ( confer identity to individual body segments
102
Cancer and cervical ribs
- mutation in HOX?? | - Higher frequency of cancer than general population
103
De La Chapelle Syndrome
- recombination of SRY gene ( XX male) | - infertility, 10% show hypospadias
104
Pure Gonadal Dysgenesis
- XY female, loss of function of SRY GENE
105
Pharmacokinetic Variation
- Variation in proteins involved in drug metabolism or transport - Enzymes that catalyze drug metabolism
106
Pharmacodynamic Variation
- Variation in drug targets | potency
107
Butyrlcholinesterase (BChE)
- Breaks down Succinylcholine (fast) - Defect in BChE is AUTOSOMAL RECESSIVE* - Normal # above 75 under 20 (homo)
108
N-acetlytransferase 2 (NAT2)
- Breaks down Isoniazid (Acetylation way of metabolization) - Autosomal recessive - lower then 3 in plasma concentration
109
CYP2D6
- Breaks down antidepressants, antiarhythmics, analgesics - Debisoquine(antihypertensive) and sperteine (oxytotic) - Autosomal recessive - Breaks down: metoprolol, haloperidol, codeine, dextromethorphan, fluoxetine, imipromine, desipromine
110
Thiopurine S-Methyltransferase (TPMT)
- break down method is S-methylation | - 6-mercaptopurine and azathioprine
111
CYP2C9
- Warfarin Breakdown
112
Idiosyncratic
- result from interactions between the drug and a unique aspect of the physiology of the individual patient
113
G6PD
- protects RBC from oxidative injury (NADPH)
114
Malignant Hyperthermia
- 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
- Caffeine-Halothane Muscle Contracture Test - Halothane Test - Caffeine Test
- tests for Malignant Hyperthermia
116
Quantitative trate
- Number of dominance alleles determine phenotype
117
liability
- All factors that contribute to a disease | - Genetic is hight
118
Threshold
- At a certion point in which you will get the illness
119
Concordance
- both twins have the same disorder | - if 100% disorder is genetically determined
120
Discordance
- one twin has the disorder and the other does not

Midterms (4 decks)

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