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CELS 191 > Human Molecular Genetics > Flashcards

Human Molecular Genetics Flashcards

1
Q

Why was the human genome sequenced?

A

To identify all human genes
Analyse genetic variation

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2
Q

How many different donors is the Human Reference genome made up of?

A

20

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3
Q

Describe the structure of mitochondrial DNA

A

Single, circular structure.
16,569 base pairs
All from mother
37 genes

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4
Q

Describe the structure of structure of nuclear DNA?

A

22 Autosomes, X and Y
6 billion base pairs
Half from each parent
About 20,000 genes

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5
Q

What were the findings of the human genome?

A

Less than 2% of our genome codes for proteins
Genomes are still evolving
There are no uniquely ‘human’ genes

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6
Q

How percentage of genes are intron?

A

20%

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7
Q

What is an SNP?

A

Single Nucleotide Polymorphisms which are sites in DNA that vary within populations

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8
Q

How common are SNPs?

A

1 in every 300 nucleotides

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9
Q

Where are SNPs mainly from?

A

Your parents

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10
Q

Are SNPs harmful?

A

Not often

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11
Q

What can SNPs tell us?

A

Who we are related to.
Ancestors
Response to drugs

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12
Q

True or false, a linked SNP is less likely to be inherited?

A

False

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13
Q

What are STRs?

A

Short tandem repeats, repeats of 2-5 nucleotides, found in specific regions of the genome

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14
Q

What are InDels?

A

Small insertions or deletions, second most common variant type in the human genome

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15
Q

What does it mean for a person to be 3,8 at STR 1?

A

They have inherited 8 repeats of CAG from their mother and 3 from their father

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16
Q

What are the structural variants in the human genome?

A

CNVs

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17
Q

What is a CNV?

A

Copy number variation are chunks of DNA that are present in different amounts relative to the reference genome.

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17
Q

How many CNVs do humans have?

A

10,000

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18
Q

How do you compare sequences?

A

By aligning them, lining them up and marking the points where the sequences are the same

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18
Q

Why can we not accurate sequence DNA as it degrades?

A

DNA changes its sequence as it degrades

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19
Q

What are CNV genes commonly associated with?

A

Sensory perception and immunity

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20
Q

What can we achieve from comparing genomes within a species?

A

Differences may show disease or characteristics of an individual

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20
Q

What did we discover from sequencing Neanderthal nucleotides?

A

Modern humans in Europe and Asia carried Neanderthal DNA.
Our DNA holds variants that arose in Neanderthals

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21
Q

How much of the non-African genome is Neanderthal DNA?

A

2-4%

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22
Q

Are mutations inherited or aquired?

A

Both

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23
Q

What is a mutation?

A

Permanent changes to the DNA sequence

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24
Q

What are germline mutations?

A

Mutations that are passed on via the gametes

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25
Q

What are somatic mutations?

A

Mutations in somatic cells, they are not passed to the next generation

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26
Q

What kind of mutation is cancer caused by?

A

Somatic

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27
Q

What is the driving force of evolution?

A

Mutations

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28
Q

What does being diploid mean for humans?

A

They have two copies of each of their genes

29
Q

What does a mutation require to have a phenotype?

A

Affect the function of a gene

30
Q

Is loss or gain of function alleles dominant?

A

Gain of function

31
Q

Why are loss of function alleles typically recessive?

A

because a normal copy of the gene exists on another chromosome which can replace the lost function

32
Q

Why is a gain of function mutation dominant?

A

Because having an allele that does something well or novel, will not be replaced with a normal copy of the gene

33
Q

What is a Monogenic Disease?

A

A disease caused by the inheritance of 1 gene.

34
Q

What is a characteristic of an autosomal recessive mutation?

A

Not seen in every generation
Passed on by 2 asymptomatic carriers
Inherited by females and males equally

35
Q

What are the characteristics of an autosomal dominant inheritance

A

Occurs commonly
Affect individuals have an affect parent
Inherited equally by both males and females

36
Q

What are the characteristics of an X-linked recessive inheritance pattern?

A

Fathers cannot pass to their son
Mostly affects males

37
Q

What is a polygenic disorder?

A

Involve several genes acting together with environmental factors.

38
Q

What is genetic determinism?

A

With most disease, disease related variation may not mean that you get the disease.
Diseases are probabilistic, not deterministic.

39
Q

What percentage of human genes have an unknown function?

A

20% (4,000)

40
Q

How can we find out what a gene does?

A

Find the equivalent gene in another organism and increase the rate of random mutation. Deliberately break a particular gene and see what happens

41
Q

What is a model organism?

A

Ones that can be raised in a controlled environment and are easy to genetically manipulate.

42
Q

What are 3 model organism?

A

Mouse, zebrafish, drosophila.

43
Q

What is transgenesis?

A

Engineering a multicellular organism by adding ‘foreign’ DNA

44
Q

What is the purpose of transgenesi?

A

Understand how genes work, in gene therapy, or engineer recombinant proteins

45
Q

How does transgenesis occur in mice?

A

DNA is reimplanted into eggs

46
Q

How do we know whether a gene variant is pathogenic?

A

Genes can be damaged or modified, and by examining the model organism, we can identify what a gene normally does

47
Q

What is CRISPR?

A

Clustered regularly interspaced short palindromic repeats. A gene editing program.

48
Q

Describe targeted mutation using CRISPR-Cas9

A

First decide what gene you wish to mutate and then design a guide RNA and bind it to your gene of interest.

49
Q

What happens when CRISPR-Cas9 enters the nucleus?

A

It finds the target sequence and matches it using guide RNA, it then makes a double stranded break in the DNA. In the absence of the the template, DNA enzymes try to repair the cut, and because of this, it is possible to edit the DNA sequence at the cut site

50
Q

Can we fix genetic disease?

A

Yes! But only if we know what causes it and have a way to correct the defect.

51
Q

Describe gene therapy in terms of cystic fibrosis

A

By taking fake plasmid DNA and inserting it into the lungs via a nebulizer. This makes proteins which restore the functions of some cells.

52
Q

What is the purpose of gene therapy/

A

To fix genetic disease in somatic cells

53
Q

How can genetic disease be fixed in the germline? (3)

A

Test embryos before implantation
3 parent babies
Edited babies

54
Q

Describe the specialisation of cells during embryotic development

A

An embryo begins as totipotent cells which can give rise to all cell types, it then becomes terminally differentiated and eventually can only give rise to one type of cell.

54
Q

How is the fate of an embryonic cell determined?

A

By proteins turning genes on and off. Certain control genes which code for transcription become activated.

54
Q

What is a totipotent cell>

A

A naive embryo cell

54
Q

What is genomic equivalence?

A

Differentiated cells can change phenotypically but also genotypically

54
Q

What is a pluripotent cell?

A

They can develop into any cell type, given the right conditions.

54
Q

Where are embryonic stem cells harvested from?

A

Inner cell mass of Mammalian blastoclast embryos

55
Q

What are iPS?

A

Induced pluripotent stem cells

56
Q

What is the purpose of iPS?

A

They are made by reprogramming adult stem cells and can be made from anyone.

57
Q

What features does a stem cell have?

A

They are undifferentiated, multipotent cells

57
Q

True or false, there is a limit to how much a stem cell can divide?

A

False

57
Q

What is the purpose of a stem cell?

A

To replace the cells that need to be replaced

57
Q

What type of stem cells can be used for transplants?

A

hematopoietic stem cells

57
Q

What is the purpose of umbilical cord banking?

A

Can be used to treat blood diseases such as leukaemia and are less restricted than other blood stem cells

58
Q

What are hematopoietic stem cells and where are they found?

A

Blood stem cells and are found in the bone marrow

58
Q

What kind of cell is totipotent?

A

Fertilised egg cells

59
Q

What is totipotent?

A

Able produce any cell of an adult individual

60
Q

What types of cells are pluripotent?

A

Embryonic stem cells

61
Q

What is multipotent?

A

Cells that can only give rise to one or a few cell types

62
Q

What cells are multipotent?

A

Adult stem cells

63
Q

What is the basis of regenerative medicine?

A

Pluripotent stem cells can be used to replace or repair damaged organs

64
Q

How does regenerative medicine work?

A

Stem cells can be encouraged to differentiate into specific cell types and can be transplanted into patients

CELS 191 (4 decks)

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