Genomics

Question 1

What is the role of genomics in healthcare?

Answer 1

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.

Question 2

What is genomics?

Answer 2

The structural and functional mapping of genomes and their evolutions

Question 3

What is a gene?

Answer 3

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

Question 4

What is a chromatin?

Answer 4

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

Question 5

How many histones are there in a nucleosome?

Answer 5

8

Question 6

What are the function of histones in a nucleosome?

Answer 6

The histones help package and regulate the DNA in the chromatin

Question 7

What is DNA made of?

Answer 7

A sugar called deoxyribose

Question 8

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

Answer 8

The rungs are base pairs which weakly bond together.

They form a code which cells follow to make proteins

Question 9

What are the two different types of nucleotides?

Answer 9

Purines (A and G)

Pyrimidines (T and C or U in RNA)

Question 10

What are the matches in base pairs?

Answer 10

A always pairs with T (or U in RNA)

G always pairs with C

Question 11

How does DNA make RNA?

Answer 11

Through a process called Transcription

Question 12

How does DNA make proteins?

Answer 12

Through a process called Translation

Question 13

What is the first stage of transcription?

Answer 13

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

Question 14

What is the second stage of transcription?

Answer 14

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

Question 15

What is the third stage of transcription?

Answer 15

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

Question 16

What is the fourth stage of transcription?

Answer 16

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

Question 17

What is the final stage of transcription?

Answer 17

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.

Question 18

What are exons?

Answer 18

A region in the messenger RNA made during transcription.

They code for a protein.

Question 19

What are introns?

Answer 19

A region in the messenger RNA made during transcription.

They are non-coding sections.

Question 20

What is intron splicing?

Answer 20

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

Question 21

What happens in order for translation to begin?

Answer 21

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.

Question 22

What are 3 letter codons involved in translation?

Answer 22

AUG
GGG
UAG

Question 23

What does UAG code for in translation?

Answer 23

UAG is the ‘stop’ codone that stops translation.

Question 24

What does AUG code for in translation?

Answer 24

An amino acid called Methionine

Question 25

What does GGG code for in translation?

Answer 25

An amino acid called Glycine

Question 26

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

Answer 26

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

Question 27

What do amino acids do for the final protein?

Answer 27

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.

Question 28

How many genes are there roughly in the human body?

Answer 28

~ 21,000 genes

Question 29

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

Answer 29

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

Question 30

What is alternative gene splicing?

Answer 30

A process that causes genes to produce more than one protein

Question 31

What are the two main groups of proteins?

Answer 31

Structural and functional types

Question 32

What are 3 structural protein types?

Answer 32

Collagen Elastin Keratin

Question 33

What are 3 functional protein types?

Answer 33

Enzymes Ion channels Neurotransmitter receptors

Question 34

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

Answer 34

Translational modification

Question 35

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

Answer 35

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

Question 36

What is a pseudogene?

Answer 36

non-functional genes | 'damaged' gene sequence

Question 37

What are some key features of pseudogenes?

Answer 37

They either do not produce proteins or it is non-functional They lack key regulatory regions Premature stop codon Partially deleted gene sequence

Question 38

What are the two types of sexual reproduction?

Answer 38

Meiosis Mitosis

Question 39

What is meiosis?

Answer 39

special cell division for production of gametes.

Question 40

What causes genetic variation?

Answer 40

Meiosis and Mitosis

Question 41

What are mutagens?

Answer 41

accidental damage to the genetic material

Question 42

What are examples of mutagens?

Answer 42

pollutants/environmental triggers (chemicals, smoke) Viral insertions Ultraviolet light Radiation

Question 43

What are different effects from genetic mutations

Answer 43

Inconsequential (no net effect) Consequential (has an effect) (mild-lethal)

Question 44

What are the main categories of variants?

Answer 44

loss/gain function variant Benign (not associated with disease) Pathogenic (associated with disease) Variants of uncertain significance (the unkowns)

Question 45

What is a Missense Mutation?

Answer 45

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.

Question 46

What is a Nonsense Mutation?

Answer 46

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

Question 47

What are indels?

Answer 47

Insertions and deletions where a nucleotide is added or removed.

Question 48

How do indels affect a coding sequence?

Answer 48

Change in the reading frame Change in the amino acid sequence Change the function of resulting protein

Question 49

What causes Cystic Fibrosis?

Answer 49

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

Question 50

What are translocations?

Answer 50

Chromosomal abnormalities

Question 51

What are inversions?

Answer 51

Reversal of genetic coding region

Question 52

What are copy number variants?

Answer 52

Deletion or duplication of coding region

Question 53

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

Answer 53

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.

Question 54

What are the benefits for new sequencing technology?

Answer 54

Much more rapid Highly automated Relatively inexpensive

Question 55

What is Bioinformatics?

Answer 55

Analysis, storage, annotation and retrieval of genomic data.