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Applied Health Science > Introduction to Genomics > Flashcards

Introduction to Genomics Flashcards

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1
Q

What is the role of genomics in healthcare?

A

Genomics has the potential to transform healthcare with more accurate diagnosis of a broader range of diseases with a genetic basis and allows patients to know their likelihood of developing one of these diseases.

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2
Q

What is genomics?

A

Structural and functional mapping of genomes and their evolutions.

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3
Q

What is a chromatin?

A

Consists of DNA and protein.

Found inside the nucleus of a cell, it is a bit of a ‘tangled mess’

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4
Q

What are histones?

A

Histones help package and regulate the DNA in the chromatin.

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5
Q

How many histones are there in a nucleosome?

A

8

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6
Q

What is DNA made up of?

A

A sugar called deoxyribose

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7
Q

How are the ‘rungs’ of the DNA ladder made?

A

Base pairs that weakly bond together to form these rungs.

They form a code which cells follow to make proteins

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8
Q

What are the two types of nucleotides?

A

Purines (base pairs AG)

Pyrimidines (base pairs TC)

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9
Q

What always pairs with A and what always pairs with G?

A

A always pairs with T (or U in RNA)

G always pairs with C

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10
Q

How is RNA made?

A

DNA holds a code which is used to make RNA through a process called transcription.

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11
Q

How does RNA make proteins?

A

Through a process called translation

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12
Q

How do amino acids know when to stop translating?

A

There is a ‘stop’ codon = UAG which stops the translation

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13
Q

How many amino acids are directly coded in the genome?

A

20 amino acids in the human body

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14
Q

What are the 4 characteristics of a protein?

A

Non-polar side chains
Polar side chains
Acidic side chains
Basic (alkali side chains)

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15
Q

What are the purpose of amino acids?

A

Amino acids do different ‘jobs’ in the final protein. If you change one of the amino acids in the sequence, then you could change the function of the protein.

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16
Q

How many genes do we have approximately?

A

~21,000

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17
Q

What are gene mutations?

A

Not all versions of a gene are the same, some genes will change causing mutations

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18
Q

What are the 4 types of gene mutations

A

Gain of function mutations
Loss of function mutations
Lethal mutations
Ineffective mutations

19
Q

How does a single gene produce multiple proteins?

A

Through a process called alternative gene splicing

20
Q

What are the two types of proteins?

A

Proteins have structural and functional types

21
Q

What are some of the structural protein types?

A

Collagen
Elastin
Keratin

22
Q

What are some of the functional protein types?

A

Enzymes
Ion channels
Neurotransmitter receptors
Antibodies

23
Q

How do we changed the structure and function of a protein?

A

Through a process called translational modification

24
Q

What are the 4 steps of translational modification?

A
  1. add carbohydrate parts
  2. add lipid parts
  3. modifying AA side chains
  4. Adding chemical regulators
25
Q

What is a pseudogene?

A

Non-functional gene (‘damaged’ gene sequence)

26
Q

What are the key features of pseudogenes?

A

They either do not produce proteins or it is non-functional

They lack key regulatory regions (e.g. missing introns or promoter)

They have a start codon but a premature stop codon

They may have a partially deleted gene sequence

27
Q

What are the two types of sexual reproduction?

A

Meiosis

Mitosis

28
Q

What is Meiosis?

A

Special cell division for production of gametes

29
Q

What are some other reasons for genetic variation?

A

Genetic recombination events

Random crossovers

Independent assortment of alleles/gene variants

Random fertilisation

30
Q

What are some examples of mutagens?

A

Pollutants/environmental triggers

Viral insertions

Ultraviolet light

Radiation

31
Q

What is a mutation?

A

Any heritable changes to DNA sequence

32
Q

What is an inconsequential mutation?

A

A mutation that leads to no net effect on the person

33
Q

What is an consequential mutation?

A

A mutation that does have an effect on a person (ranges from milk to severe to lethal)

34
Q

What is a loss/gain of function variant?

A

A gene product that either gains or loses some or all of its function

35
Q

What are the several different mechanism identified in a variant

A

Single nucleotide variants

Intels (insertion or deletion)

Structural variants

Repeat variants

36
Q

What is a missense mutation?

A

a single nucleotide that has been substituted for a different one. The code has been changed so that they could specify a different AA

37
Q

What is a nonsense mutation?

A

A single nucleotide has been substituted for a different one. The code has been changed to STOP codon so that AA sequence of resulting proteins is truncated.

38
Q

What is a translocation?

A

A chromosomal abnormality

39
Q

What is an inversion?

A

Reversal of a genetic coding region

40
Q

What are copy number variants?

A

Deletions or duplication of coding region

41
Q

What are some categories of genetic variations ?

A

Missense and Nonsense variants

Insertions/Deletions

Single nucleotide variants

42
Q

What is the process of a blood test for a monogenic disorder?

A
  1. take a sample of DNA (usually blood)
  2. use gene-specific reactions to ‘copy’ the gene
  3. Separate the ‘copies’ by size
  4. If there is a gene deletion, the smaller copy will show up
43
Q

What are the benefits of new sequencing technology?

A

Much more rapid
Highly automated
Relatively inexpensive

44
Q

What is bioinformatics?

A

The analysis, storage, annotation and retrieval of genomic data.

Applied Health Science (1 decks)

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