L1- Genetic Material Flashcards

1
Q

What are the chemical parts of a nucleotide? A nucleoside?

A

Nucleotides contain a base, a sugar and a phosphate(s). Nucleosides contain only a base and a sugar.

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2
Q

What is the chemical difference between the second carbons of RNA and DNA?

A

RNA has a 2’ OH group. DNA has an H at this position.

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3
Q

What is the direction in which DNA and RNA are read and written?

A

5’ to 3’.

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4
Q

The terms ‘denaturation’ and ‘annealing’ of double stranded oligos and primers refer to what physical change?

A

Strand separation (denaturation) and strand association (annealing).

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5
Q

Which class of enzymes relaxes positive and negative DNA supercoils?

A

Topoisomerases.

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6
Q

How many chromosomes do diploid human cells have?

A

46

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7
Q

How many base pairs does the haploid human genome contain, approximately?

A

About 3 billion.

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8
Q

What percent of human DNA codes for proteins?

A

1-2%

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9
Q

How many proteins do human genes encode, roughly (not including splice variants)?

A

About 30,000.

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10
Q

The average protein is about __ amino acids long.

A

About 400

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11
Q

What process often leads to more than one form of mature RNA being formed from a given transcript?

A

Alternative RNA splicing.

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12
Q

Functionally related genes that appear close to each other in the genome belong to the same ____.

A

Gene cluster (i.e. beta globin gene cluster).

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13
Q

What is a pseudogene?

A

A piece of DNA homologous to a coding segment that does not code for a protein.

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14
Q

Compared to pseudogenes, processed psudogenes lack ____.

A

Introns.

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15
Q

What is a provirus?

A

DNA copies of ancient viruses that have integrated themselves into the genome. There are about a thousand proviruses integrated into the human genome, and they make up about 8% of our DNA.

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16
Q

What is a transposable element?

A

A piece of DNA that can insert copies of itself in a new location within the genome.

17
Q

What percent of our genome is composed of short interspersed repeat elements (SINEs)?

A

About 10%. Note that SINEs are inserted into the genome via reverse transcription.

18
Q

What percent of our genome encodes long (>500 nt) interspersed repeat elements (LINEs)?

A

About 20%.

19
Q

What is a transposase?

A

An enzyme that allows movement of a transposable DNA element. Note that some elements encode their own transposase.

20
Q

Name two types of SSRs (simple sequence repeats).

A

Microsatellites (very short repeats) and minisatellites (14-500 base pair repeats).

21
Q

What is the function of telomeres?

A

They protect the end of chromosomes from degradation.

22
Q

Where are telomeres found and what is their base sequence?

A

Telomeres are found at the ends of chromosomes. They contain 1000-1700 copies of the hexameric sequence TTAGGG.

23
Q

What is meant by the term mitotic clock?

A

It refers to the loss of 50-200 nucleotides from the ends of chromosomes every time a cell divides. When the telomeres are sufficiently shortened, the cell is no longer able to divide.

24
Q

Name two drugs that inhibit topoisomerases.

A

Camptothecin and mAMSA.

25
Q

What polymerase is often activated in cancer cells?

A

Telomerase - this enzyme rejuvenates the telomeres and circumvents the mitotic clock.

26
Q

How is DNA packaged in nucleosomes?

A

DNA is wrapped around histone octomers. These are packed together to form chromatin fibers.

27
Q

Telomerase is a ____ (type of enzyme).

A

Reverse transcriptase (it uses an RNA template).

28
Q

What type of enzyme is encoded by LINEs?

A

A reverse transcriptase. This is involved in introducing additional copies of the LINE into the genome.

29
Q

What is a single nucleotide polymorphism (SNP)?

A

It is a common single base substitution between individuals. Rare single base substitutions are called mutations.

30
Q

Why are simple sequent repeats (SSRs) used as biomarkers?

A

SSRs tend to be highly polymorphic, so the number of copies varies from one individual to another. This allows them to be useful biomarkers.