1.8 Genomic Sequencing Flashcards

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1
Q

What is genomics?

A

study of genomes - involves determining the sequence of nucleotide base of organisms DNA - genomic sequencing and the relating this genetic info about genes to their functions
this process of genomics involves bioinformatics

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2
Q

What is bioinformatics?

A

combo of molecular biology statistical analysis and computer technology
allows scientists to rapidly map and analyse DNA sequences on a huge scale and compare them

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3
Q

What is genomics used to investigate?

A

evolutionary biology
inheritance
personalised medicine

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4
Q

What are the two steps of establishing the sequence of a genome?

A

cutting it into smaller chunks

putting the chunks back together

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5
Q

Explain these steps?

A

cutting the genome into smaller fragments using restriction endonucleases (restriction enzymes)
restriction endonucleases recognise specific short sequences called restriction sites and cut the DNA at every point this sequence appears
each restriction endonuclease is specific to its restriction site

Putting the pieces back together
two copies of genome are digested with different restriction endonucleases producing two sets of fragments
computer analysis of the fragment overlaps between the two sets of fragments all calculation of the active genome

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6
Q

What are comparative genomics?

A

this branch of genomics compares the sequenced genomes of :
members of different species
members of the same species
cancerous cells and normal cells

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7
Q

What is a single nucleotide polymorphism (SNP)?

A

variation on a DNA sequence that affects a single base pair

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8
Q

What is the use of SNP?

A

SNP maps will help scientists to identify and understand the workings of genes associated with diseases

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9
Q

What is conserved genetic sequences?

A

close comparison of genomes reveals important similarities

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10
Q

What are phylogenetics?

A

compares sequence data of different species to determine how related they are and when they diverged (split) from a common ancestor - isolated

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11
Q

Sequence divergence?

A

can be used along with the fossil record in drawing molecular clock graphs

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12
Q

Molecular clocks?

A

these diagrams based on the assumption that the mutation rate of genes leading to amino acid differences are constant throughout time

based on sequence differences of a particular protein
differences in sequences related to a protein in different species are graphed on one axis
other shows timescale of divergence based on relative sequence differences

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13
Q

Phylogenetic trees?

A

sequence data in combo with fossil evidence used to draw phylogenetic trees

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14
Q

Fossil evidence use in relation to phylogenetic trees?

A

to add timescales

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15
Q

Three domains of life?

A

prokaryotes
eukaryotes
archaea

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16
Q

Personal genomics?

A

an individuals genome sequence could therefore:
be used to predict the risk of developing conditions, allowing them to make lifestyle choices to reduce the risk
be used to inform the prescription of the most effective drugs - personalised medicine - pharmacogenetics

17
Q

Ethical issues?

A

informing a person of possible future illnesses may cause distress
employers and insurance companies may avoid people who they suspect may become ill in the future if they have access to this information