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Genome Flashcards

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Biology 101 flashcards
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
Q

What does the polypeptide chain do once it reaches a codon that codes for a stop

A

It will fold and modify into a protein

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26
Q

What is the Three letters of the start codon

A

AUG

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27
Q

What are the three letters for the stop codon (3)

A

UAA
UGA
UAG

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28
Q

What type of chain are there for different amino acids (4)

A

Non Polar
Acidic
Basic (alkali)
Polar

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29
Q

What happens if you change an amino acid in the sequence

A

It could change the function of the protein

30
Q

What is the estimate for the amount of genes in humans

A

21,000

31
Q

genes can have differences such as

A

Gain functions
Lose functions
lethal mutation
Ineffective mutation s

32
Q

What is the process where genes produce more than one gene product (protein)

A

Alternative gene splicing

33
Q

What are the structural proteins (5)

A

Collagen
Elastin
Keratin
Desmoglein
Tubulin

34
Q

What are the functional proteins (5)

A

Enzymes
Ion channels
Neurotransmitter receptors
Antibodies – many types
Active transporters – e.g. Na+/K+ ATPase

35
Q

What is gene

A

Basic unit of heridity

36
Q

What is pseudogene

A

Non functional gene that creates a damaged gene sequence

37
Q

Define exons

A

Protein Coding region

38
Q

Define introns

A

Non protein codon regions

39
Q

What is alternative slicing

A

Same gene is coded in a different way to make two different proteins

40
Q

What are the post translational modification

A

Carbohydrates
lipids
Modify AA chain
Add chemical regulators

41
Q

What could make a pseudogene (5)

A

missing promotor
Missing start codon
Premature stop codon
Missing introns
Partial deletion

42
Q

What is the structure of human genome

A

bases (3.2 billion)
Genes (21,000)
RNA code(22,000)
Pseudogens (14,000)
1.5% genome sequence encodes functional proteins

43
Q

wha is a large percentage of genes are what

A

unclassified (23.5%)

44
Q

What three main things we have a huge number of (genes)

A

Unknown functions
Unknown interactions
Unknown alternative functions

45
Q

What is a genotype

A

set of genetic material including various variant gene they carry.

46
Q

Define meiosis

A

Special cell division for production of gametes

47
Q

What are the three causes of genetic variation

A

organism that is different from others of its type because of a permanent change in its gene

48
Q

examples of mutagens (5)

A

Pollutants and environmental triggers
Endogenous
Viral insertions
Ultraviolet light
Ionising radiation

49
Q

define mutation

A

Any heritable change to the DNA sequence

50
Q

Define somatic mutation

A

Passed to dividing cell in tissues
E.g. cancer

51
Q

Define germline mutation

A

Passed from parent to offspring

52
Q

What are the main categories of Variant (4)

A

-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
Q

Physical types of variants (4)

A

Single nucleotide
Indels
structural
Repeat

54
Q

Define missense mutation

A

A single nucleotide has been substituted for a different one

55
Q

Define nonsense mutation

A

a single nucleotide has been substituted for a different one but a stop codon has been made.

56
Q

define INDELS

A

Insertion and deletion where nucleotides have been added or removed

57
Q

what is the mechanism for a frameshift mutation

A

insertion and deletion mechanism

58
Q

Structural variants (4)

A

Translocations- chromosomal abnormalities
Inversions- reversal coding region
Large deletions- 1000 base pairs
Copy number- deletion or duplication of coding region

59
Q

Define translocation variant

A

Chromosomal abnormalities

60
Q

Define inversions variant

A

Reversal genetic coding

61
Q

Define large deletion

A

1000 base pairs

62
Q

Define copy number variants

A

deletion and duplication of coding region

63
Q

frameshift mutation

A

Insertion and deletion the reading frame is changed

64
Q

Define mitosis

A

The process by which a single cell divides to make two new daughter cells.

65
Q

What is epigenetic

A

The study of how gene activity can be controlled without challenging the DNA sequence itself.

66
Q

What factors can cause epigenetic changes that affect the way genes work (on and off)

A

Behaviour
Environmental

67
Q

What is bioinformatics

A

Analysis, storage, annotation and retrieval of genomic data.

68
Q

what are the four steps for a blood test monogenic disorders

A

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
Q

Health care genomic main goals

A
  • 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
Q

What triggers epigenetic

A

Toxic chemicals
Diet
Psychological state
microbiomes
therapeutic drugs
Disease
Infections viral/ bacteria
Exercise

71
Q

How does epigenetic work

A

by adding a chemical group to tag the DNA.

72
Q

What are the epigenetic tags

A

methylation
alteration of histones
alteration of regulatory RNAs

Applied science (1 decks)

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