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Genome Flashcards

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1
Q

What is genomics

A

The Structural and functional mapping of genomes and there evolution.

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2
Q

What is genetics

A

Study of genetics passing from offspring (heredity)

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3
Q

What can be the structures of genomics

A

Humans
Other animals
Bacteria
Viruses
Protists

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4
Q

What are the functions of genomics (3)

A

Tract viral infections and variants
Track gene transfer
Track drug resistance in pathogens

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5
Q

Define genetic coding

A

A sequence of nucleotides that encodes the sequence of aminio acids that make up a protein

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6
Q

What does chromatin consist of

A

DNA
Proteins

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7
Q

What is contained in nucleosomes

A

Histones
that help ‘package’ `and regulate the DNA strand.

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8
Q

What does DNA stand for

A

Deoxyribonucleic Acid

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9
Q

What are the base pairs

A

A pairs w/ T ——-(Or U in RNA)
G pairs w/C

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10
Q

What makes a codon

A

Three nucleotides combination

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11
Q

What does a three letter codon code for

A

Amino acid
Stop

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12
Q

What are the Four nucleotides called

A

A is adenine
U is uracil
G is guanine
C is cytosine

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13
Q

What are nucleotides divided into two groups called and what is included in each group

A

Purines ( Adenine and Guanine)
Pyrimidines (thymine and cytosine and (uracil in RNA)

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14
Q

What is the bonding between the base pairs

A

Hydrogen bonding

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15
Q

What is included in DNA

A

base pairs
Deoxyribose phosphate backbone

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16
Q

what is genomics in healthcare

A

More accurate diagnosis of a broader range of diseases with a genetic bases and also likelihood the patient will get the disease.

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17
Q

How can proteins occur from DNA

A

DNA can go through transcription to get RNA
RNA can go through translation to get proteins

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18
Q

Where does transcription occur

A

In the nucleus of the cell where RNA polymerase attaches to the start of the gene. the DNA unwinds to produce messenger RNA complementary to the DNA sequence.

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19
Q

Why are the structure and sequence of codons so important

A

Because it produces the structure and the function of the Protein

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20
Q

What is the difference between RNA and DNA

A

RNA single stranded
Have a U base than a T base

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21
Q

What codes for amino acids in RNA
Exons or Introns

A

Extron

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22
Q

Where does translation phase occur

A

in the cytoplasm

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23
Q

What happens in the translation phase

A

Messenger RNA moves out of the nucleus and binds to the ribosomes
strand of MRNA will move from one codon at a time starting at a start codon and moving trough which is called transfer RNA will carry on creating amino acids at the ribosome until it reaches a stop codon which is where it terminates.

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24
Q

What is the chain called of amino acids

A

Polypeptide chain

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25
What does the polypeptide chain do once it reaches a codon that codes for a stop
It will fold and modify into a protein
26
What is the Three letters of the start codon
AUG
27
What are the three letters for the stop codon (3)
UAA UGA UAG
28
What type of chain are there for different amino acids (4)
Non Polar Acidic Basic (alkali) Polar
29
What happens if you change an amino acid in the sequence
It could change the function of the protein
30
What is the estimate for the amount of genes in humans
21,000
31
genes can have differences such as
Gain functions Lose functions lethal mutation Ineffective mutation s
32
What is the process where genes produce more than one gene product (protein)
Alternative gene splicing
33
What are the structural proteins (5)
Collagen Elastin Keratin Desmoglein Tubulin
34
What are the functional proteins (5)
Enzymes Ion channels Neurotransmitter receptors Antibodies – many types Active transporters – e.g. Na+/K+ ATPase
35
What is gene
Basic unit of heridity
36
What is pseudogene
Non functional gene that creates a damaged gene sequence
37
Define exons
Protein Coding region
38
Define introns
Non protein codon regions
39
What is alternative slicing
Same gene is coded in a different way to make two different proteins
40
What are the post translational modification
Carbohydrates lipids Modify AA chain Add chemical regulators
41
What could make a pseudogene (5)
missing promotor Missing start codon Premature stop codon Missing introns Partial deletion
42
What is the structure of human genome
bases (3.2 billion) Genes (21,000) RNA code(22,000) Pseudogens (14,000) 1.5% genome sequence encodes functional proteins
43
wha is a large percentage of genes are what
unclassified (23.5%)
44
What three main things we have a huge number of (genes)
Unknown functions Unknown interactions Unknown alternative functions
45
What is a genotype
set of genetic material including various variant gene they carry.
46
Define meiosis
Special cell division for production of gametes
47
What are the three causes of genetic variation
organism that is different from others of its type because of a permanent change in its gene
48
examples of mutagens (5)
Pollutants and environmental triggers Endogenous Viral insertions Ultraviolet light Ionising radiation
49
define mutation
Any heritable change to the DNA sequence
50
Define somatic mutation
Passed to dividing cell in tissues E.g. cancer
51
Define germline mutation
Passed from parent to offspring
52
What are the main categories of Variant (4)
-loss of function variant- gene product loses some or all of function -gain of function variant - new or enhanced activity for gene product -benign -Pathogenic
53
Physical types of variants (4)
Single nucleotide Indels structural Repeat
54
Define missense mutation
A single nucleotide has been substituted for a different one
55
Define nonsense mutation
a single nucleotide has been substituted for a different one but a stop codon has been made.
56
define INDELS
Insertion and deletion where nucleotides have been added or removed
57
what is the mechanism for a frameshift mutation
insertion and deletion mechanism
58
Structural variants (4)
Translocations- chromosomal abnormalities Inversions- reversal coding region Large deletions- 1000 base pairs Copy number- deletion or duplication of coding region
59
Define translocation variant
Chromosomal abnormalities
60
Define inversions variant
Reversal genetic coding
61
Define large deletion
1000 base pairs
62
Define copy number variants
deletion and duplication of coding region
63
frameshift mutation
Insertion and deletion the reading frame is changed
64
Define mitosis
The process by which a single cell divides to make two new daughter cells.
65
What is epigenetic
The study of how gene activity can be controlled without challenging the DNA sequence itself.
66
What factors can cause epigenetic changes that affect the way genes work (on and off)
Behaviour Environmental
67
What is bioinformatics
Analysis, storage, annotation and retrieval of genomic data.
68
what are the four steps for a blood test monogenic disorders
1- take sample of DNA 2- Use gene specific reaction to copy gene (PCR) 3- Separate copies by size 4- if there is a gene deletion the smaller copy will show up.
69
Health care genomic main goals
- Identify risk and individual basis - develop rapid, accurate and comprehensive genetic testing - Promote early diagnosis of disease - inform strategies for conventional treatment - inform and direct relevance and high person specific precision treatment.
70
What triggers epigenetic
Toxic chemicals Diet Psychological state microbiomes therapeutic drugs Disease Infections viral/ bacteria Exercise
71
How does epigenetic work
by adding a chemical group to tag the DNA.
72
What are the epigenetic tags
methylation alteration of histones alteration of regulatory RNAs

Applied science (1 decks)

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