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ECU Genetics > Genetics Intro > Flashcards

Genetics Intro Flashcards

1
Q

Human Genome

A

99% nuclear DNA

1% Mitochondrial DNA

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2
Q

Mitochondrial DNA

A

1) Multiple Copies
2) Circular ds DNA duplex
3) Located in mitochondrial Matrix
4) approx 16,500 BP
5) Codes for 2 rRNAs, 22 tRNAs, and mRNA (13 proteins)

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3
Q

Mitochondrial DNA code for 13 proteins which function as:

A

7 subunits of the NADH-CoQ reductase complex
3 subunits of cyt oxidase complex
1 subunit of cyt b-c1 complex
2 Subunits of ATP synthase

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4
Q

LHON

  • name
  • caused by?
  • Symptoms/Comments
A

Leber’s Hereditary Optic Neuropathy
(Mitochondrial DNA Disease)
80% are point mutations in the gene coding for subunit IV of the NADH-CoQ reductase (Complex 1)

1st Symptom- Blurring and clouding of vision.

  • Can begin in one eye or both eyes at same time
  • If one eye, the other eye affected within weeks or months

Males affected more than females

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5
Q

MERRF

  • name
  • caused by?
  • Symptoms/Comments
A

Myoclonic Epilepsy and Ragged Red Muscle Fibers
(Mitochondrial DNA Disease)
80% mutation in tRNA-Lysine

Most Common Symptom-Myoclonus= brief sudden twitching muscle spasms
Other Symptoms: Epileptic, seizures, taxis, muscle weakness

Microscopic Muscle Biopsy-ragged-red Fibers

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6
Q

MELAS

A

Mitochondrial encephalomyopathy lactic acidosis, and Stoke-like episodes
(Mitochondrial DNA Disease)
80% mutation in tRNA-Leucine1

Encephalopathy (Brain dysfunction) w/seizures and headaches

Lactic Acidosis- muscle disease w/a build-=up of lactic acid in blood

Stroke-like episodes-Temporary local paralysis

Dementia

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7
Q

mtDNA diseases

A

1) LHON
- Leber’s Hereditary Optic Neuropathy
2) MERRF
- Myoclonic Epilepsy and Ragged Red Muscle Fibers
3) MELAS
- Mitochondrial Encephalomyopathy, lactic acidosis, and stroke-like episodes

Multisystem DIseases

  • Maternal Inheritance pattern
  • 800 babies born w/mtDNA disease per year
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8
Q

Nuclear DNA

A

Multiple Chromosomes

-linear ds-DNA

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9
Q

Organization of Nuclear DNA

A

Genes & Related DNA (28% of genome)

1) Single (low) copy genes (25%)
- Protein coding genes; mRNA
- Exons-info (1%)
- Introns-noninfo (24%)
2) Multiple Copy Genes (3% of genome)
- Proteins (Histones & Ribosomal proteins)
- tRNA coding genes
- rRNA coding genes
3) Pseudogenes

NonCoding Region (72%) of genome

1) Repetitive DNA (55%)
- Centromere
- Telomere
- Dispersed Repetitive DNA
2) Other intergenic noncoding DNA (17%)
- regulatory elements

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10
Q

Pseudogenes

A

Imperfect copy of functional gene

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11
Q

Function of Telomeres

A

1) Block Chromosomal Fusion

2) Prevent Chromosomal Fraying w/subsequent DNA degradation via exonuclease

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12
Q

Telomere is composed of

A

Repetitive DNA + Proteins

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13
Q

HD

  • cause
  • Symptoms/comments
A

Huntingtons Disease
(TNED-trinucleotide repeat expansion diseases)

CAG repeat in exon1 of the HD gene
-Normal: 6-35
Abnormal: 6-120

Decreased GABA & Ach
Increased Dopamine
Movement disorder
Depression
Dementia
occurs in young patient (20-50)
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14
Q

Fragile X Syndrome

  • cause
  • Symptoms/comments
A

AKA Mental Retardation 1 Gene or FMR1
(TNED-trinucleotide repeat expansion diseases)

CGG repeat in noncoding region of FMR1 gene
Normal <200
Abnormal >200

Mental Retardation
Autism
Long face/Large Jaw
Large Ears
Large Testicles (Macrochidism)
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15
Q

FA

A

Friedreich’s Ataxia
(TNED-trinucleotide repeat expansion diseases)

GAA repeat in first intron of the FXN gene
Normal: 7-34
Abnormal: 35-1500

Muscle Weakness
Loss of Deep Tendon Reflexes
Foot Deformities
Clumsy gait with falls
nystagmus
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16
Q

Myotonic Dystrophy-Type 1

A

(TNED-trinucleotide repeat expansion diseases)

CTG repeat on DMPK (myotonic dystrophy protein kinase) Gene
Normal: 5-37
Premutation: 38-50
Full Mutation: 51-11,000

Myotonia
Muscle Wasting
Cataracts
Testicular Atrophy
Arrhythmia
Frontal Balding
Classicly "can't release a doorknob/handshake"
17
Q

Human Genome Project

A

1) Determined Sequence of nonrepetitive DNA
2) Identified all human genes (20k-30k protein coding genes)
3) Genetic Map

18
Q

ENCODE

A

1) Encyclopedia of DNA Elements
2) Identified all fxnal elements of DNA in coding and noncoding regions
3) Non-coding DNA is FXNAL:

19
Q

Non-Coding DNA

A
  • Repetitive DNA, introns, regulatory DNA

- Fxn: regulation of gene expression and chromosome structure

20
Q

Gene Therapy (Ex-Vivo) Steps

A

1) Remove cells from patient
2) Virus modified to NOT reproduce
3) Gene is inserted into virus (Vector)
- Retrovirus-RNA
- adenovirus-DNA
4) Virus introduced to cells and transfer genes
- retrovirus-inserts gene into host genome
- adenovirus makes (circular)episome w/gene
5) Introduce modified cells into host
6) Altered cells produce desired protein

21
Q

FDA approved Gene Therapies

A

1) All acute lymphoblastic leukemia (retroviral Vector)
2) Yescarta for Large B cell Lymphoma (Retroviral Vector)
3) Retinitis Pigmentosa (Adeno-associated vector)

22
Q

Drawbacks of Gene Therapy

A

1) Insertional Mutagenesis
- retrovirus vector inserts gene and leads to mutation
2) Overexpression of new gene
3) Virus becomes reproductively active
4) IN VIVO- could trigger massive immune response.

23
Q

CRISPR

A

Clustered Regularly Interspacedd Short Palindromic Repeats

1) Targeted Genome Editing w/RNA-Guided Cas9
2) Cas9
- DNA endonuclease in bacteria
- defense system against invading DNA (Virus)
- 2 active sites that cleaves both strands of DNA
3) PAM
- complementary RNA molecule of Target DNA
- guides Cas9 to Target
4) After cleavage Homologous Recombination for precise gene editing

24
Q

Primary DNA structure

A

1) Nucleotide Sequence

25
Q

Sequencing Primary DNA structure

A

First Generation-1 gene

  • Maxim-Gilbert Method
  • Sanger Method

Second Generation- entire genome

  • Shotgun Sequencing
  • Bridge PCR
  • High Throughput Methods
26
Q

Secondary DNA structure

A

dsDNA duplex(helix)

27
Q

Tertiary DNA Structure

A

1) Superhelicity

- coiling of molecule on itself

28
Q

Properties of dsDNA Helix (secondary)

A

1) Antiparallel
2) Bases inside Helix
3) Phosphates +Sugars=Backbone
4) Nucleotides connected by 3’,5’ phosphodiester bonds
5) Major/Minor Grooves
6) BP 3.4 A away
7) 20A wide
8) 34 A per turn (10 BP)

29
Q

Pitch

A

Distance for 1 helical turn (34 A)

30
Q

Rise

A

Distance b/w adjacent BP (3.4 A)

31
Q

Stability of ds DNA duplex

A

2 factors

1) H-bonding
- GC (3 bonds)
- AT (2 Bonds)
2) Base Stacking
- Hydrophobic Interactions
- Van Der Waals Interactions

Dependent upon Base concentration
-Higher melting point if More GC than AT

32
Q

Denaturation of dsDNA

A

1) Reversible
2) Conditions
- Increase Temp
- Increase or decrease pH
- Decrease Ionic Strength (salt conc.)
- Chemical Reagents (Urea)

33
Q

Thermal Denaturation

A

Hyperchromic Effect

  • dsDNA absorbs less light near 260 nm than the 2 strands separate
  • Increase Temp=Increase Absorbance
34
Q

Renaturation

A

2 step process

1) Nucleation (2nd order)
- slow step
- complementary strands need to encounter each other

2) Zippering (1st order)
- fast
- strands align to. native DNA

ECU Genetics (6 decks)

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