Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Yr 1 - DNA > Human Genome > Flashcards

Human Genome Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

Definition of genomics

A

The study of the genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Definition of the genome

A

The entire make up of an organism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Where is genetic information stored?

A

DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How is this information arranged?

A

Arranged in genes that code for proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Where are genes located?

A

On chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is a somatic cell?

A

Any cells of a living organism other than the reproductive cells. They are diploid.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are gametes?

A

Sperm/egg cells. They are haploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Define haploid

A

Only contains half the usual number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Define diploid

A

Normal number of chromosomes (one maternal set and one paternal set). This is 46 in humans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How many chromosomes in somatic cell?

A

There are 46 chromosomes (23 pairs). 22 of these pairs are autosomes (look the same in male and female). The 23rd pair is the sex chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are autosomes?

A

These are non-sex chromosomes. There are 22 pairs and they are numbered in order of size (1 biggest)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the sex chromosomes in females?

A

2 copies of X chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the sex chromosomes in males?

A

1 copy of X chromosome and 1 copy of Y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How & why are red blood cells exceptions?

A

Lose their nucleus to help them squeeze through capillaries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is X-inactivation?

A

X-inactivation is when one of the two X chromosomes in female cells is inactivated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Why does X-inactivation happen?

A

So that female cells do not express twice as much of the X chromosome genes as male cells

17
Q

What is a Barr body

A

This inactivated X chromosome is pushed to the edge of the nucleus

18
Q

What is Xist?

A

X-inactive specific transcript

Is a non-coding regulatory RNA on the X chromosome that acts as a major effector of the X-inactivation process

19
Q

How does Xist work?

A

Switches off a copy of the X chromosome in XX cells

20
Q

Describe functional chromosomes in women

A

Don’t have 46 functional chromosomes in each 2n cell

BECAUSE

They inactivate one copy of their X chromosome in each cells (Xist)

21
Q

Why do females inactivate one copy of their X chromosome in each cell?

A

So that females don’t express as much of the X chromosome genes as male cells

22
Q

What do females do with this silenced X chromsome?

A

Push it to edge of nucleus –> Barr body

23
Q

Describe genome of chimps and gorillas

A

High similarity to humans but 2n = 48

24
Q

What is human chromosome 2 an equivalent of in chimps?

A

Human chromosome 2 is equivalent of fusion of chimp chromosomes 12 and 13

Therefore humans 2n = 46 and chimps 2n = 48

25
Q

Describe genome of Fugu fish compared to humans

A

Fugu genome is 7.5x smaller than human genome (genes very densely packed)

26
Q

What is VNTRs?

A

Variable number tandem sequences

A location in a genome where a short nucleotide sequence is organised as a tandem repeat. These can be found on many chromosomes, and often show variations in length (number of repeats) among individuals.

E.g. ATTCG ATTCG ATTCG (all in a row)

27
Q

What can VNTRs be a result of?

A

Can be caused by slippage of DNA polymerase during replication

Slippage can sometimes cause disease

28
Q

What is Huntington’s Disease caused by?

A

Expansion of long CAG repeat

29
Q

What is PCR? How is it used?

A

Polymerase chain reaction

When there are multiple copies of short sequence VNTRs, some of these are of a convenient size to be amplified by PCR. Uses unique seqences on either side of VNTR.

Variable number repeats help to identify us

E.g:

PCR oligo 1 –> (ATTCG ATTCG ATTCG ATTCG)n

30
Q

What are PCR and VNTRs used for?

A

DNA fingerprinting, forensic testing, paternity testing

31
Q

What is DNA slippage?

A

A mutation process that occurs during DNA replication - involves denaturation and displacement of the DNA strands, resulting in mispairing of the complementary bases

Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences.

Yr 1 - DNA (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions