Genetics Flashcards

(79 cards)

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
Goals of human genome project
Genetic linkage mapping > least accurate Physical mapping DNA sequencing > most accurate
26
What technique is used for physical mapping?
Chromosome walking
27
DNA sequencing method
di deoxy nucleotide High throughput pyrosequencing (lucifer,sulfury) Consortium and Celera method
28
Timeline of defining the genetic material
``` Weisman - nucleus substance Griffiths transformation Avery's transformation Hersheys-Chase bacteriophage Watson and Crick double helix ```
29
What is the griffiths experiment?
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
30
Details of Averys transformation experiment
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
31
Detail s of Hershley experiment
Use phage T2 - contain DNA and protein Infect E.Coli with DNA and protein containing phage Only DNA is discovered from bacterial phages.
32
Details of Schramm TMV experiment
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
What is the 3 components of DNA?
Sugar - pentose,deoxyribos,ribose Nitrogenous base- guanin, adenin, thymine, cytosine Phosphate group (backbone) attached to carbon 5'
34
Details of watson crick experiment
Based on erwin chargaff 50% purines and 50% pyrimidines Amount of A = Amount of T Amount of g = Amount of C
35
Who determined structure of DNA?
Diffraction studies by Rosalind Franklin and Maurice Wilkins
36
Concept of DNA replication
Seperation of 2 strands Parental strands are used as templates and nucleotides are connected. This is called the semi-conservative model
37
Which experiment proved the semi-conservative model?
Meselon and Stahl - using N14 and N15 followed by centrifugation
38
Explain Nucleotide incorporation
DNA polymerase add nucleotides. The nulceotides are tri phosphates 2 phosphates are lost during combination.
39
Outline ookazaki experiment
``` Short pulse of radioactive nucleotides Add non-radioactive Separate Sucrose gradient and centrifuged 2 fragments ```
40
Example of DNA repair disorders
``` Xeroderma Cockayne syndrome Triothiodystrophy Werners syndrome Blooms syndrome Ataxia Breast/colon cancer ```
41
Genes make enzymes sugested by..
Garrod
42
How genetic code was deciphered?
Used synthetic RNA base pairing
43
Synthesis of RNA
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
pre-mRNA > mRNA
Introns are spliced out by spliceosome
45
Genetic code synthesis
``` 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
Elongation cycle (translation)
``` tRNA binds to mRNA codon recognition peptide bond formation translocation repeat untill release factor is reached in the mRNA ```
47
Molecular basis of sickle cell disease
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
Frameshift and substitution base pair
Frameshift - a base is missing or added into strand | Substitution- a base is substituted
49
Define Obligate virus parasite
Can infect multiple hosts e.g rabies vrius affect several species
50
Tissue specificity (virus)
HIV virus only affects white blood cells
51
Viral reproductive cycle
2 different ways Can self replicate Or be transcribed in host cell (mRNA) and multiplied as Capsid proteins.
52
Structure of HIV
``` Glycoprotein Viral envelope capsid RNA stands reverse transcriptase ```
53
first use of viral vaccines
cowpox sore used to vaccinate against smallpox by Jenner
54
What is a Prion
an infectious molecule, turns a protein into prion. e.g scrapie,madcow,kuru,CJD. They are heat resistant
55
3 process of bacterial genetic exchange (TCT)
Transduction Conjugation transformation
56
Example of prokaryote gene expression regulation
lac operon - promote RNA syn | cAMP - part of RNA syn complex
57
Define control elements
An enhancement/control site in the DNA
58
Egg cytoplasm contains...
RNA and proteins
59
Define Induction
Signals that cause change in target cell
60
Define determination | Example of determination
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
Define master regulatory genes
Protein products that commit cells to becoming skeletal cells
62
Define pattern formation
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
Define bicoid
maternal effect gene coding for morphogen protein
64
Define proto oncogene
useful gene that stimulates cell growth/division
65
Oncogene
A mutated proto oncogene which is a hyperactive or degradation resistant protein
66
Tumour supressor genes
contained within cells this type of mutation leads to decrease/loss of function may contribute to cancer-absence of inhibitory signals
67
state the function of p53 gene
Halts the cell cycle while DNA damage is repaired Activates DNA repair genes Activates suicide genes, apoptosis
68
Example of tumour suppressor genes
p53 DCC APC
69
What is chromatin
DNA + protein | 3 meters of DNA must be packaged in human chromosomes
70
DNA packaging process
Double Helix DNA > Beads on strings > Histone interaction > protein scaffolding (looped domain) > coiling
71
Define heterochromatin
highly condensed nucleoprotein, not usually transcribed
72
Define Euchromatin
less condensed nucleoprotein
73
Types of DNA sequences in human genome
``` Transposible elements Introns/regulatory sequences noncoding DNA Repetitive DNA Alu elements ```
74
2 types of Transposons effects in eukaryotes
Transposons- move within genome by DNA intermediate | Retrotransposons- move within genome by RNA int.
75
Transposons effects are derived from?
Alu sequences
76
Cause of huntingtons disease
Overproduction of CAG genes | norm = 10-29
77
Example of multigene families of non-identical genes
Globins, different forms are expressed at different times of development
78
define telomeres
reptitive non-coding DNA Dont contain genes Protect and organism gene 100-1000 TTAGGG repeats
79
Define telomerase
Catalyse the lengthening of telomeres