Genes Flashcards

1
Q

What is a promoter gene?

A

Sequence of genes at the start of the strand which are triggered to start transcription.

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2
Q

What is an enhancer gene?

A

Sequence of genes which can be triggered to increase the rate of transcription

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3
Q

What is the terminator gene>

A

Sequence of genes at the end of the DNA strand which stop transcription

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4
Q

What is retrotranscription?

A

Conversion of RNA to DNA

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5
Q

Which microbes use retrotranscription?

A

Viruses insert viral RNA into the host cell which produces Viral DNA via retro transcription

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6
Q

What is nuclear DNA?

A

16,600bp of linear DNA inherited from both parents contained within the nucleus

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7
Q

What is mitochondrial DNA?

A

32bp of circular DNA maternally inherited

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8
Q

What is the order of genetic material in the body?

A

gene< DNA< chromatin< chromosomes

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9
Q

What is the structure of chromatin?

A

Chromatin is composed of nucleosomes- 146bp of two DNA strands wrapped around a histone protein core separated by linker DNA of 72bp.

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10
Q

What makes up the majority of nuclear mass?

A

Chromatin

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11
Q

What are the forms of chromatin?

A

Euchromatin which is less dense
Heterochromatin which is more dense

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12
Q

Which chromatin is used in transcription?

A

Euchromatin

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13
Q

What are telomeres?

A

Ends of DNA to prevent damage during replication

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14
Q

What is the long arm of chromosome?

A

Q arm

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15
Q

What is the short arm of the chromosome?

A

p arm

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16
Q

What is transcription?

A

The use of DNA template strand to create an RNA copy, initiated by RNA polymerase

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17
Q

What are distal control elements?

A

Regulatory genes

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18
Q

What are transcription factors?

A

Control the rate of transcription

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19
Q

What is the role of the preinitiation complex?

A

To orientate RNA polymerase to the target DNA site

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20
Q

Which direction does RNA polymerase add nucleotides?

A

5’ to 3’ end

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20
Q

What does the majority of the genome code for?

A

Structural proteins, regulatory proteins, junk DNA

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21
Q

How do transcription factors repress transcription?

A

Causes deacetylation of histone protein which increases binding regions for DNA to associate more strongly

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22
Q

How do transcription factors increase transcription rate?

A

Causes acetylation of histone protein which weakens DNA associations for RNA polymerase access. Also recruits distal control elements to bind to the enhancer genes

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23
Q

What is a primary transcript?

A

The mature RNA strand of only exons

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24
Q

What is splicing and where does it occur?

A

Removal of introns from conserved sequences

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25
Q

What is the process of splicing?

A

Cleavage of introns by enzymes which moves downstream to form a lariat loop which is excised

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26
Q

What is alternative splicing?

A

Differences in splicing due to cell type, differentiation

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27
Q

How is mature RNA stabilised?

A

Polyadenylation of 100-600 bases on 3’ end and cap added to 5’ end via guanyl transferase enzyme to replace triphosphate group

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28
Q

What are the common post translational modifications?

A

phosphorylation and glycosylation

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29
Q

How is RNA regulated?

A

microRNA and long non-coding RNA (over 200 bases long)

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30
Q

What is the function of the small and large ribosomal subunits?

A

small- binding of tRNA and mRNA
long- catalyses the addition of polypeptide

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31
Q

What is the function of TRNA?

A

Transfer of amino acids to the anticodon

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32
Q

What happens after stop codon is reached?

A

Releasing factor is excreted which causes disassembling of the ribosome

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33
Q

What is the difference in translation between prokaryotes and eukaryotes?

A

Prokaryotes use tRNA for protein synthesis instead of ribosomes

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34
Q

Why is the antibiotic tetracyclin prescribed?

A

antibiotic by preventing association of tRNA with ribosome

34
Q

Why is the antibiotic chloramphenicol prescribed?

A

antibiotic which blocks bacterial ribosome from binding

35
Q

What is secondary structure?

A

folding of protein in alpha helix and beta pleated sheets due to h bonds

36
Q

What is the quarternary structure?

A

3d structure of a protein due to the

37
Q

What are homologous chromosomes?

A

identical chromosomes

38
Q

How long is cell division?

A

24 hours

39
Q

Function of G2 Phase?

A

protein replication, cell grows in size

40
Q

How does the centromere attach to chromosomes?

A

via the kinetechore, a complex of centromeric proteins

41
Q

What is the order of mitosis?

A

prohase, prometaphase, metaphase, anaphase, telophase

42
Q

What occurs during prophase?

A

chromosomes supercondese, centrosomes produce spindle threads that move to opposite cell poles

43
Q

What are centrosomes?

A

organelles that produce tubulin which form microtubules in an orientation that forms spindle threads

44
Q

What occurs during prometaphase?

A
45
Q

Where are spindle threads produced in the cell?

A
46
Q

Why is fluorouracil prescribed?

A
46
Q

Why is fluorouracil prescribed?

A
47
Q

Process of thymine synthesis?

A
48
Q

Why is methotrexate prescribed?

A
49
Q

Process of folate synthesis?

A
50
Q

Why is vinblastine prescribed?

A
51
Q

Why is paclitaxel prescribed?

A
52
Q

Why is cyclophosphoamide prescribed?

A
53
Q

Why is cyclosporin prescribed?

A
53
Q

Why is tacrolimus prescribed?

A
54
Q

Why is sacrolimus prescribed?

A
55
Q

What are the cytostatic drugs?

A
56
Q

What is karyotype and what is it used for?

A
57
Q

What are the types of centromeric abnormalities?

A
58
Q

Why are RBCs separated from the rest of the blood sample when obtaining patient karyotype?

A
59
Q

How do we prevent progression from metaphase during karyotyping?

A
60
Q

How can we idenfity homologous chromosomes?

A
61
Q

Give examples of sex abnormality conditions

A
62
Q

Give example of autosmal recessive conditions

A
63
Q

Give example of autosomal dominant condition

A
64
Q

Give examples of X linked inheritance?

A
65
Q

WHat is chromosomal disjunction and the conditions associated with it?

A
66
Q

What is the function of the CFTR gene?

A
67
Q

What are the classes of cystic fibrosis?

A
68
Q

What is a nonsense mutation?

A
69
Q

What is a missense mutation?

A
70
Q

What is repeat expansion mutation?

A
71
Q

What is a truncated protein?

A
72
Q

What is polymorphism?

A
73
Q

What should medical professionals consider for patients with genetic conditions?

A
74
Q

What is PCR?

A
75
Q

What is a microsatellite?

A
76
Q

What is a single nucleotide repeat?

A
77
Q

What are examples of genetic polymorphism in the population?

A
78
Q

What is the human leukocytic antigen?

A
79
Q

What can we use polymorphism for?

A
80
Q

How do restriction enzymes identify sickle cell?

A
81
Q

What are genetic maps?

A
82
Q

What is genetic recombination?

A
83
Q

What is the Hardy- Wenburg principle in non-evolving population?

A