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CELS 191 > Module 3 > Flashcards

Module 3 Flashcards

1
Q

Why was the human genome sequenced?

A

The human genome was sequenced to find all the human genes and to identify the types and
extent of variation in the human population.

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2
Q

Define Genome?

A

Complete set of DNA of an organism, including all it’s genes.

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3
Q

What are SNPs?

A

Single Nucleotide Polymorphisms are sites in the DNA that commonly vary within qpopulations

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4
Q

What are STRs?

A

Short Tandem repeats are repeats of 2-5 nucleotides, found in specific regions of genome

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5
Q

What are inDels?

A

small insertions or deletions.
Second most common variant type in human genome
Can cause “frame shift”- change in the way DNA is read,
if in protein-coding regions Insertion of one letter
Deletion of two letters.

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6
Q

What are CNVs?

A

Copy Number Variation are chunks of DNA > 500bp that are present. at different amounts or “copy numbers”
relative to a reference genome

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7
Q

features of CNNVs?

A

Can be deleted or duplicated
Can span multiple genes
Humans have 10,000 CNVs, found within and between genes.
Many genes found in CNV are associated with sensory
perception (e.g. smell) and immunity.

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8
Q

Features of Genes in relation to Genome Sequencing?

A

There are fewer than 21,000 human protein coding genes, and less than 2% of the genome codes for proteins. There are no unique “human” genes, and we still don’t know what all the genes do.

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9
Q

How similar is the human genome?

A

All humans are 99.9% similar at sequence level, regardless of race or ethnicity. African genomes vary most.

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10
Q

What is the purpose of genome sequencing?

A

Knowledge of variation can be used to diagnose genetic disease, to determine which drugs will work best in a patient, to determine our close relatives, or our species’ origins

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11
Q

What is comparative genomics?

A

comparing what is common and different, conserved traits common between species, identifying what bits of the gene are responsible for what.

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12
Q

How do you compare sequences?

A

By lining them up next to each other and marking each point where sequences are the same. This is called ‘aligning’

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13
Q

When studying genomes of individuals, where might differences occur?

A

disease
characteristics of an individual
evolutionary history

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14
Q

What could we learn about an organism if we compare its genome with others?

A

What sort of genes they have
How differences between species arise
Relationships between species

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15
Q

What does genome sequencing tell us?

A

The sequencing of genomes has helped us better understand who we are and where we came from.
Our extinct relatives are not just fossils in our museums, but live on as variants in our genomes which affect our biology

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16
Q

What is the purpose of comparing genomes?

A

Comparing genomes within a species can help us identify variants that might be related to phenotype.
Comparing genomes with other species can help us identify variants related to the biology of an organism.

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17
Q

What are germline mutations?

A

Mutations that are inherited and passed on through gametes.

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18
Q

What are somatic mutations?

A

Mutations that are acquired. by somatic cells if DNA is damaged or not copied correctly. They are not passes on to the next generation.

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19
Q

What do mutations do>

A

Driving force for evolution. They can have a beneficial, no affect or deleterious effect on an individual.

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20
Q

How are mutations classified?

A

Recessive or dominat.

Loss of function or gain of function.

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21
Q

What is a dominant mutation?

A

A dominant mutation is one that causes a phenotype when heterozygous

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22
Q

What is a recessive mutation>

A

A recessive mutation is one that causes a phenotype when only when homozygous

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23
Q

What does loss of function mean?

A

A mutation might break a gene to cause it to not work as well as normal, or not work at all.
Loss of function mutations are often recessive, because a normal copy of the gene exists on the other chromosome which can replace the lost function.

24
Q

What does Gain of function mean?

A

Some times a mutation can cause a gene to work too well, or to do something unexpected.
Gain of function mutations are often dominant, because having an allele that works too well or does something novel, will not be replaced by the normal copy of the gene

25
Q

What are polygenic Disorders?

A

Polygenic disorders involve several genes acting together or environmental factors interacting with genes.

26
Q

What does a pedigree indicate about mutations?

A

The inheritance of a trait in a pedigree can tell us a lot about the location and sort of mutation

27
Q

What are some examples of single gene disorders?

A

Haemophilia A/B - X-linked recessive
Huntington disease - autosomal dominant
Cystic fibrosis - autosomal recessive

28
Q

How o we get information about the function of a gene from it’s phenotype?

A

By studying organisms that are naturally mutant for a particular gene, we can work out what that gene might do

29
Q

What is the first mechanism of functional molecular genetics?

A

Study organisms that are naturally mutant for that gene (rare!)

30
Q

What is the second mechanism of functional molecular genetics?

A

Increase the rate of random mutation, select for a phenotype of interest and sequence the genome to identify the mutation (genetic screen)

31
Q

What is the third mechanism of functional molecular genetics?

A

Take a gene you are interested in, copy it and insert it into another organism (transgenesis/genetic engineering)

32
Q

What is the fourth mechanism of functional molecular genetics?

A

Deliberately break a particular gene to see what happens (targeted mutation/gene knockout/reverse genetics)

33
Q

What are model organisms?

A

Model organisms are ones that can be easily
raised in a controlled environment and are easy
to manipulate genetically.

34
Q

What is transgenesis?

A

Transgenesis is where we add DNA from to a genome to make a new protein, or replace a defective gene.Engineering a multicellular organism by adding a foreign DNA.

35
Q

What is the purpose of transgenesis?

A

We can use transgenic DNA to understand how genes work, to engineer recombinant proteins (synthetic biology), or in gene therapy approaches.

36
Q

How do we know if a gene variant is pathogenic?

A

Knowledge of variation in the population or in parents, can be used to identify variants that may
be disease causing (pathogenic) in an individual.We can damage, or modify, the gene we are interested in by genetically modifying an organism or cell line.
By examining the organism, or its offspring we should be able to work out what the gene normally does.

37
Q

What is CRISPR-Cas9?

A

CRISPR-Cas9 is one method that can be used to “break” or modify a gene to replicate a possible disease causing variant in a model organism, to see if the disease develops as a re

38
Q

What is the basic principle of embryonic development?

A

Cells become more specialised and less flexible during development

39
Q

What are embryonic stem cells?

A

pluripotent cells which give rise to all somatic cell types in the embryo

40
Q

Where d ESCs come from?

A

These are “harvested” from the inner cell mass (future

embryo) of mammalian blastocyst embryos.

41
Q

What are Induced Pluripotent Stem (iPS) Cells?

A

cells are made by “reprogramming” adult skin cells.
iPS cells can be made from anyone, and are genetically identical to the source skin cells. As they are also pluripotent, they can generate any cell type.

42
Q

What are adult (tissue) stem cells?

A

They are undifferentiated, multipotent cells that can divide to give rise to both stem cells and cells which will go on to differentiate into one or more (but not all) types of functional tissue

43
Q

What are Umbilical cord stem cells?

A

The stem cells are multipotent, as they are immature blood stem cells. They are less restricted than blood stem cells from adults.

44
Q

What is the role of adult tissue stem cells?

A

Stem cells are important for tissues
such as blood and skin which need
constant renewing

45
Q

What are blood stem cells?

A

Blood stem cells or haematopoietic stem cells are found in the bone marrow and can be used for transplants.

46
Q

Define totipotent?

A

Capable of giving rise to any cell typ

47
Q

Define pluripotent?

A

Capable of giving rise to several different cell types.

48
Q

Define multipotent.?

A

Having the potential of becoming any of several mature cell types multipotent stem cells.

49
Q

What is the concept of gene therapy?

A

It is based on the idea that it may be possible to alter the genetic code of an individual’s cells. It is proposed as a way of correcting single gene disorders.

50
Q

What is Regenerative medicine?

A

Regenerative medicine is based on the idea that pluripotent stem cells can be used to repair or replace damaged organs or tissues.

51
Q

What is the process of Regenerative medicine?

A

Pluripotent stem cells can be made from skin cells or blood cells from a patient, matched donors, or from
embryos.
These stem cells can be encouraged to differentiate into specific cell types such as neurons, or retinal cells.
The differentiated cells can be transplanted into patients.

52
Q

What is the role of regulatory proteins?

A

To activate certain genes and shut down others by interacting with non-coding DNA

53
Q

What is the role of adult stem cells?

A

Act to replace growing or worn out tissues by dividing continuously throughout life to produce one to a few different types of new differentiating cells (e.g. blood, skin).

54
Q

What is the purpose of gene therapy?

A

Stem cells can be edited or used with gene therapy to “fix” genetic disease in patients, as the corrections
to the DNA are passed on to all daughter cells.

55
Q

What is the role of stem cells?

A

Stem cells can also be used to create genetically identical or immune-compatible tissues for transplants.

CELS 191 (3 decks)

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