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Fundamental Aspects of Care 01.06.22 > Genomics > Flashcards

Genomics Flashcards

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 to allow patients to know their likelihood of developing one of these diseases.

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2
Q

What is genomics?

A

The structural and functional mapping of genomes and their evolutions

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3
Q

What is a gene?

A

A sequence of nucleotides that encodes the sequence of amino acids that make u a protein

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4
Q

What is a chromatin?

A

Consists of DNA and protein found inside the nucleus of a cell

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5
Q

How many histones are there in a nucleosome?

A

8

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6
Q

What are the function of histones in a nucleosome?

A

The histones help package and regulate the DNA in the chromatin

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7
Q

What is DNA made of?

A

A sugar called deoxyribose

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8
Q

How does DNA form the ‘rungs’ of the classic ladder shape?

A

The rungs are base pairs which weakly bond together.

They form a code which cells follow to make proteins

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9
Q

What are the two different types of nucleotides?

A

Purines (A and G)

Pyrimidines (T and C or U in RNA)

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10
Q

What are the matches in base pairs?

A

A always pairs with T (or U in RNA)

G always pairs with C

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11
Q

How does DNA make RNA?

A

Through a process called Transcription

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12
Q

How does DNA make proteins?

A

Through a process called Translation

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13
Q

What is the first stage of transcription?

A

A gene is a continuous string of nucleotides, containing a region that codes for an RNA molecule.

This region begins with a promotor and ends in a terminator

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14
Q

What is the second stage of transcription?

A

The promotor region of a gene functions as a recognition site for RNA to bind.

This is where the majority of gene expression is controlled by either permitting or blocking access to this site by the RNA

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15
Q

What is the third stage of transcription?

A

Binding causes the DNA helix to unwind, open and then elongate in which the RNA slides along the template DNA strand.

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16
Q

What is the fourth stage of transcription?

A

As the complementary bases pair up, the RNA links nucleotides to the three prime ends of the growing RNA molecule.

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17
Q

What is the final stage of transcription?

A

Once the terminator portion of the gene reaches the messenger, the RNA transcript is complete and the RNA, DNA and messenger RNA transcript dissociate from each other.

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18
Q

What are exons?

A

A region in the messenger RNA made during transcription.

They code for a protein.

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19
Q

What are introns?

A

A region in the messenger RNA made during transcription.

They are non-coding sections.

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20
Q

What is intron splicing?

A

Where the non-coding introns are removed and modified and either a 5-prime or 3-prime poly tail is added

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21
Q

What happens in order for translation to begin?

A

Intron splicing which removes the intron segments and joins adjacent exons to produce a mature messenger RNA strand, leaving the nucleus through a nuclear pore, entering the cytoplasm.

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22
Q

What are 3 letter codons involved in translation?

A

AUG
GGG
UAG

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23
Q

What does UAG code for in translation?

A

UAG is the ‘stop’ codone that stops translation.

24
Q

What does AUG code for in translation?

A

An amino acid called Methionine

25
Q

What does GGG code for in translation?

A

An amino acid called Glycine

26
Q

What are 4 types of characteristics in a final protein structure?

A
  1. Non-polar side chains
  2. Acidic side chains
  3. Alkali side chains
  4. Polar side chains
27
Q

What do amino acids do for the final protein?

A

The amino acids do different jobs. If you change one of the amino acids in the sequence, then you could change the function of the protein.

28
Q

How many genes are there roughly in the human body?

A

~ 21,000 genes

29
Q

What are the 4 different types of mutation a gene can mutate into?

A
  1. Gain of function mutations
  2. loss of function mutations
  3. lethal mutations
  4. ineffective mutations
30
Q

What is alternative gene splicing?

A

A process that causes genes to produce more than one protein

31
Q

What are the two main groups of proteins?

A

Structural and functional types

32
Q

What are 3 structural protein types?

A

Collagen
Elastin
Keratin

33
Q

What are 3 functional protein types?

A

Enzymes
Ion channels
Neurotransmitter receptors

34
Q

What process allows us to make changes to the structure and function of the final protein?

A

Translational modification

35
Q

What are the 4 steps in the process of translational modification?

A
  1. adding carbohydrate parts
  2. adding lipid parts
  3. modifying AA side chains
  4. adding chemical regulators
36
Q

What is a pseudogene?

A

non-functional genes

‘damaged’ gene sequence

37
Q

What are some key features of pseudogenes?

A

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

They lack key regulatory regions

Premature stop codon

Partially deleted gene sequence

38
Q

What are the two types of sexual reproduction?

A

Meiosis

Mitosis

39
Q

What is meiosis?

A

special cell division for production of gametes.

40
Q

What causes genetic variation?

A

Meiosis and Mitosis

41
Q

What are mutagens?

A

accidental damage to the genetic material

42
Q

What are examples of mutagens?

A

pollutants/environmental triggers (chemicals, smoke)

Viral insertions

Ultraviolet light

Radiation

43
Q

What are different effects from genetic mutations

A

Inconsequential (no net effect)

Consequential (has an effect) (mild-lethal)

44
Q

What are the main categories of variants?

A

loss/gain function variant

Benign (not associated with disease)

Pathogenic (associated with disease)

Variants of uncertain significance (the unkowns)

45
Q

What is a Missense Mutation?

A

A single nucleotide has been substituted for a different one. The code has been changed so that they could specify a different AA, which may change its function.

46
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 is truncated.

47
Q

What are indels?

A

Insertions and deletions

where a nucleotide is added or removed.

48
Q

How do indels affect a coding sequence?

A

Change in the reading frame

Change in the amino acid sequence

Change the function of resulting protein

49
Q

What causes Cystic Fibrosis?

A

🔺F508 deletion mutation in the CFTR gene on chromosome 7 can cause cystic fibrosis.

50
Q

What are translocations?

A

Chromosomal abnormalities

51
Q

What are inversions?

A

Reversal of genetic coding region

52
Q

What are copy number variants?

A

Deletion or duplication of coding region

53
Q

How do you test for genetic mutations (cystic fibrosis as an example)?

A

Take a sample of DNA (e.g. from blood)

Use gene-specific reactions to ‘copy’ the gene (PCR)

Separate the ‘copies’ by size

If there is a gene deletion the smaller copy will show up.

54
Q

What are the benefits for new sequencing technology?

A

Much more rapid

Highly automated

Relatively inexpensive

55
Q

What is Bioinformatics?

A

Analysis, storage, annotation and retrieval of genomic data.

Fundamental Aspects of Care 01.06.22 (3 decks)

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