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PM 126 > Genetics > Flashcards

Genetics Flashcards

1
Q

Define Haploid

A

One copy of genetic material

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2
Q

Define Diploid

A

2 copies of genetic material

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3
Q

What is Chromatin

A

DNA+protein

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4
Q

Metaphase

A

The splitting of Chromosones into 2 daughter cells

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5
Q

Cell Cycle

A

Interphase > growth > DNA synthesis > Prepare for cell division > Mitosis > cytokinesis > Mitotic phase

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6
Q

3 Parts of Mitosis early stages

A

Interphase
Prophase-spindle,centromere, sister chromatids
Prometaphase- Nuclear fragmentation,Kinetochore

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7
Q

3 parts of mitosis later stages

A

metaphase - alignment
Telophase - seperation
Anaphase - cleavage

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8
Q

Cytokinesis

A

Contact ring of microfilaments forms cleavage furrow

In plants: vesicles containing cell wall material align then form.

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9
Q

Bacterial cell division

A

Chromosomes replicate
Migration of 2 daughter chromosomes
Cell wall collapse in-wards

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10
Q

Cohesin dimer/Condensin

A

Involves coiling of DNA, have ATP and DNA binding domains

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11
Q

Cell regulation (fusion), G1

A

If a nucleus does not contain chromosomes, it fuses with another cell and activates metaphase

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12
Q

What is the internal factor at the M checkpoint?

A

Kinetichores

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13
Q

Density dependant inhibition DDI

A

Cell anchorage to dish surface + divide

Multiply untill a single layer forms (DDI)

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14
Q

Position of chromosomes can be seen in…

A

Interphase

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15
Q

Meiosis

A

Replication of chromosomes / / = X X
Splitting to 2 daughter cells O = O O
Splitting of daughter cell O O = O O O O

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16
Q

Chiasma site

A

A site where recombination of chromosomes take place, creates unique diploid which splits into recombinant haploid.

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17
Q

Advantages of PCR

A

Small amounts of DNA can be amplified
Low level virus detection
Genetic counselling

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18
Q

DNA cloning

A

Isolate DNA sequence
Insert target sequence into a DNA molecule capable cloning host cell e.g cloning vector
Cloning vector + DNA sequence = recombinant DNA molecule
Introduce recombinant DNA into a host

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19
Q

Example of cloning vectors

A

PBR322 - E.coli
Yeast artificial chromosome
Ti plasmid - Agro+plant

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20
Q

Gene Therapy

A

Introduction of normal gene into affected host
Multiplication must be allowed
Retrovirus is made harmless

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21
Q

Application of cloning

A

Genes inserted in bacteria to clean toxic
Insulin synthesis, growth hormone, drugs
Pest resistance genes
Gene therapy

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22
Q

Define Genomic library

A

Collection of total genomic DNA from single organism by molecular cloning
Bacteria and yeast most commonly used as hosts
Each cell contain only 1 host molecule
Replicated in culture

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23
Q

What is PCR

A

polymerase chain reaction - 3 steps
Denature
Annealing
Extension

Enzyme catalysed synthesis of DNA

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24
Q

How to identify clone containing gene?

A

Hybridisation (use single strand)

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25
Q

Goals of human genome project

A

Genetic linkage mapping > least accurate
Physical mapping
DNA sequencing > most accurate

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26
Q

What technique is used for physical mapping?

A

Chromosome walking

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27
Q

DNA sequencing method

A

di deoxy nucleotide
High throughput pyrosequencing (lucifer,sulfury)
Consortium and Celera method

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28
Q

Timeline of defining the genetic material

A 
Weisman - nucleus substance
Griffiths transformation
Avery's transformation
Hersheys-Chase bacteriophage
Watson and Crick double helix
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29
Q

What is the griffiths experiment?

A

2 strains, smooth (S) and rough(R)
Smooth secret polysaccharide capsule, Rough does not
S produce smooth colonies, R produce rough appearance
S is virulent R is avirulent (harmless)

This is determined by injecting mouse with both strains
When mouse is injected with dead S and live R, the R transformed in S, this is called tranformation

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30
Q

Details of Averys transformation experiment

A

Type S strains are treated with DNase, RNase, Protease
Only extract containing purified DNA trans R > S
Verify it is DNA is the genetic material

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31
Q

Detail s of Hershley experiment

A

Use phage T2 - contain DNA and protein
Infect E.Coli with DNA and protein containing phage
Only DNA is discovered from bacterial phages.

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32
Q

Details of Schramm TMV experiment

A

2 strains of Tobasco mosaic virus (TMV) that contained RNA and protein.
Only RNA was found in progeny after infection

Hence, RNA is genetic material in some viruses

33
Q

What is the 3 components of DNA?

A

Sugar - pentose,deoxyribos,ribose

Nitrogenous base- guanin, adenin, thymine, cytosine

Phosphate group (backbone) attached to carbon 5’

34
Q

Details of watson crick experiment

A

Based on erwin chargaff
50% purines and 50% pyrimidines
Amount of A = Amount of T
Amount of g = Amount of C

35
Q

Who determined structure of DNA?

A

Diffraction studies by Rosalind Franklin and Maurice Wilkins

36
Q

Concept of DNA replication

A

Seperation of 2 strands
Parental strands are used as templates and nucleotides are connected.

This is called the semi-conservative model

37
Q

Which experiment proved the semi-conservative model?

A

Meselon and Stahl - using N14 and N15 followed by centrifugation

38
Q

Explain Nucleotide incorporation

A

DNA polymerase add nucleotides.
The nulceotides are tri phosphates
2 phosphates are lost during combination.

39
Q

Outline ookazaki experiment

A 
Short pulse of radioactive nucleotides
Add non-radioactive
Separate 
Sucrose gradient and centrifuged
2 fragments
40
Q

Example of DNA repair disorders

A 
Xeroderma
Cockayne syndrome
Triothiodystrophy
Werners syndrome
Blooms syndrome
Ataxia
Breast/colon cancer
41
Q

Genes make enzymes sugested by..

A

Garrod

42
Q

How genetic code was deciphered?

A

Used synthetic RNA base pairing

43
Q

Synthesis of RNA

A

RNA transcript binds to promoter 3prime to 5 prime
In eukaryotes, there is a TATA box in the promoter. The ensures that other transcription factors are bonded to the DNA BEFORE RNA pol 2.
This is called the transcription initiation complex

44
Q

pre-mRNA > mRNA

A

Introns are spliced out by spliceosome

45
Q

Genetic code synthesis

A 
Enzyme: Aminoacyl-tRNA synthase
Amino acid and nucleoside binds to enzyme
2pp is lost
tRNA binds to enzyme
genetic info is made and released.
46
Q

Elongation cycle (translation)

A 
tRNA binds to mRNA
codon recognition
peptide bond formation
translocation
repeat untill release factor is reached in the mRNA
47
Q

Molecular basis of sickle cell disease

A

A change in CTT codon into CAT codon
The responding mRNA changes from GAA to GUA
This results in coding for Val instead of Glu

48
Q

Frameshift and substitution base pair

A

Frameshift - a base is missing or added into strand

Substitution- a base is substituted

49
Q

Define Obligate virus parasite

A

Can infect multiple hosts e.g rabies vrius affect several species

50
Q

Tissue specificity (virus)

A

HIV virus only affects white blood cells

51
Q

Viral reproductive cycle

A

2 different ways
Can self replicate
Or be transcribed in host cell (mRNA) and multiplied as Capsid proteins.

52
Q

Structure of HIV

A 
Glycoprotein
Viral envelope
capsid
RNA stands
reverse transcriptase
53
Q

first use of viral vaccines

A

cowpox sore used to vaccinate against smallpox by Jenner

54
Q

What is a Prion

A

an infectious molecule, turns a protein into prion.
e.g scrapie,madcow,kuru,CJD.
They are heat resistant

55
Q

3 process of bacterial genetic exchange (TCT)

A

Transduction
Conjugation
transformation

56
Q

Example of prokaryote gene expression regulation

A

lac operon - promote RNA syn

cAMP - part of RNA syn complex

57
Q

Define control elements

A

An enhancement/control site in the DNA

58
Q

Egg cytoplasm contains…

A

RNA and proteins

59
Q

Define Induction

A

Signals that cause change in target cell

60
Q

Define determination

Example of determination

A

Events that lead to observable differentiation of a cell

Muscle cells - develop from embryonic precursor cells that develop into a number of cell types

61
Q

Define master regulatory genes

A

Protein products that commit cells to becoming skeletal cells

62
Q

Define pattern formation

A

A process in which cytoplasmic determinants and inductive signals contribute to the develoment of spatial organisation

Begins in early embryo
Synthesised by maternal effect
mainly provide positional information

63
Q

Define bicoid

A

maternal effect gene coding for morphogen protein

64
Q

Define proto oncogene

A

useful gene that stimulates cell growth/division

65
Q

Oncogene

A

A mutated proto oncogene which is a hyperactive or degradation resistant protein

66
Q

Tumour supressor genes

A

contained within cells
this type of mutation leads to decrease/loss of function
may contribute to cancer-absence of inhibitory signals

67
Q

state the function of p53 gene

A

Halts the cell cycle while DNA damage is repaired
Activates DNA repair genes
Activates suicide genes, apoptosis

68
Q

Example of tumour suppressor genes

A

p53
DCC
APC

69
Q

What is chromatin

A

DNA + protein

3 meters of DNA must be packaged in human chromosomes

70
Q

DNA packaging process

A

Double Helix DNA > Beads on strings > Histone interaction > protein scaffolding (looped domain) > coiling

71
Q

Define heterochromatin

A

highly condensed nucleoprotein, not usually transcribed

72
Q

Define Euchromatin

A

less condensed nucleoprotein

73
Q

Types of DNA sequences in human genome

A 
Transposible elements
Introns/regulatory sequences
noncoding DNA
Repetitive DNA
Alu elements
74
Q

2 types of Transposons effects in eukaryotes

A

Transposons- move within genome by DNA intermediate

Retrotransposons- move within genome by RNA int.

75
Q

Transposons effects are derived from?

A

Alu sequences

76
Q

Cause of huntingtons disease

A

Overproduction of CAG genes

norm = 10-29

77
Q

Example of multigene families of non-identical genes

A

Globins, different forms are expressed at different times of development

78
Q

define telomeres

A

reptitive non-coding DNA
Dont contain genes
Protect and organism gene
100-1000 TTAGGG repeats

79
Q

Define telomerase

A

Catalyse the lengthening of telomeres

PM 126 (2 decks)

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