Molecular Genetics Flashcards

1
Q

Describe the basic composition of a nucleotide.

A

pentose sugar, phosphate group and nitrogenous base.

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2
Q

Name the key differences between an RNA and DNA nucleotide.

A

RNA nitrogenous bases include uracil in place of thymine.
pentose sugar is deoxyribose in DNA vs ribose in RNA

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3
Q

What type of bond links nucleotides?

A

Phosphodiester.

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4
Q

Describe the structure of the double helix.

A

Hydrophobic nitrogenous bases face internally, phosphate groups on the outside forming phosphate-sugar backbone, hydrogen bonding holds the two strands together.

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4
Q

Define semi-conservative replication of DNA.

A

Each original strand is the template for a new strand (each new helix will contain one of the original strands).

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5
Q

Explain the roles of the enzymes topoisomerase and helicase in DNA replication.

A

topoisomerase unwinds the double helix.
helicase unzips the double strand.

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6
Q

Explain the roles of DNA polymerases and ligases in DNA replication.

A

DNA polymerase adds new complimentary bases to the DNA template strand.
DNA ligase links the nucleotides in the new strand together.

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7
Q

Outline the 3 stages of a PCR.

A
  1. Denaturing. Heat sample to 95C to break bonds in the double strand.
  2. Annealing. Cool to ~60C allowing primers to bind to DNA.
  3. Extension. Heat to 72C, optimal temp. for DNA polymerase (Taq).
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8
Q

Which are spliced during transcription - introns or exons?

A

Introns.

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9
Q

Transcription is..?

A

Synthesis of mRNA strand complimentary to a DNA template in the 5’ to 3’ direction.

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10
Q

Translation is…?

A

Synthesis of a protein from mRNA code, using ribosomes and specialized RNA (ribosomal and transfer).

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11
Q

Define point mutations.

A

A mutation (genetic polymorphism) in the genome in which 1 nucleotide is substituted.

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12
Q

Explain how the different types of point mutations can have varying degrees of influence on the proteome.

A

Silent = no effect due to degenerate code.
Nonsense = no protein synthesised as new triplet becomes a stop codon that terminates translation.
Missense = different amino acid translated & incorporated into protein. Can be conservative (protein still functions as normal) or non-conservative (significant changes).

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13
Q

Give one example of a known non-conservative missense mutation and explain its effects.

A

Sickle-cell anemia. Point mutation to DNA sequence for red blood cells causes haemoglobin structure to change. Originated in the Green Sahara 7,300ya.

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14
Q

Organisms with duplicate numbers of chromosomes due to mutation are called?

A

Polyploidy.

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