ILA 1 - IMMS Flashcards

1
Q

Transcription (what is it, location, stages)

A

production of mRNA, Nucleus of cell

initiation, elongation, termination

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2
Q

Process of transcription

A

RNA polymerase binds to the promoter region, elongation occurs as the RNA polymerase moves in a 5-3 direction attaching nucleoside triphosphates . RNA polymerase reaches the terminator enzyme detach and the DNA rewinds

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3
Q

Topoisomerase

A

Unwinds the DNA section

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4
Q

Topoisomerase

A

Unwinds the DNA section

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5
Q

TATA box

A

30 bases long which is a binding sight for transcription factors

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6
Q

TATA box

A

30 bases long which is a binding sight for transcription factors

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7
Q

Transcription factors

A

class of protein that bind to promoter on DNA to activate transcription –> control gene expression

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8
Q

Splicing

A

introns removed from the mRNA

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9
Q

Translation (what is it, location)

A

producing polypeptides from mRNA, occurs in the cytoplasm of a ribosome.

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10
Q

Start codon

A

AUG –> methionine

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11
Q

tRNA

A

tRNA molecules bind to a specific amino acid. And the other end have a specific anti-codon

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12
Q

Stages of translation

A

large ribosome sub unit binds the start codon to the P site, ribosome moves along towards 3’ end. Peptide bond formed between AA in P and A site (peptidyl transferase). Continues till it has reached a stop codon

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13
Q

Single nucleotide polymorphism (SNP)

A

Variation at a single nucleotide position in a DNA sequence (occurs on 1 in 300 bases). Often does not cause any issues

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14
Q

Mis-sense variation

A

One base to another base

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15
Q

Non-sense variation

A

changes the base to make a stop codon

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16
Q

Sickle cell mutation

A

Single nucleotide substitution A –> T (glutamic acid to valine) GAG –> GTG

17
Q

consequences of nucleotide alteration

A

different complimentary base pairing, different anti-codon, different AA, different polypeptide chain, different primary structure, different protein shape, different function

18
Q

Conformation change in sickle cell (protein level)

A

glutamic acid –> valine.
abnormal beta globin = HbS. The amino acid is less polar = favours hydrophobic reactions causing S sub units to stick together to form long rigid molecules. Sickle cell from the internal binding to cytoskeleton

19
Q

conformation change of haemoglobin consequences

A

haemoglobin becomes less soluble under decreasing oxygen concentrations = polymerises into crystals. Loses elasticity so cannot fit through capillaries = endothelial damage and inflammatory response = pain and can cause ischaemia

20
Q

How is sickle cell inherited?

A

autosomal recessive genetic condition

21
Q

Treatment of sickle cell

A

Can be treated with feotal Hb which increases the concentration of NO = increases transcription of gamma haemoglobin (not beta) so no deformity