Brainscape's Knowledge GenomeTM

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


See full index

My Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

What direction is DNA replicated in?

A

5’ to 3’

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

What phase of the cell cycle does DNA get replicated?

A

S phase

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

What is the amount of protein produced determined by?

A
  • rate of transcription
  • rate of splicing to mRNA
  • rate of processing of polypeptide
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a polymorphism?

A

a variation in the human genome with population frequency of greater than 1% or any variation that doesn’t cause disease but may predispose to a common disease

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

How many chromosomes does the normal human have?

A

46 including sex

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

What is the arm of a chromosome called?

A

telomere

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

What is an acrocentric chromosome?

A

a chromosome with one very short arm

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

What is unbalanced chromosome rearrangement?

A

there is an extra or missing chromosome

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

What is anueploidy?

A

a whole or extra missing chromosome

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

What is translocation?

A

rearrangement of chromosomes

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

What is Down syndrome caused by?

A

third copy of chromosome 21

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

What is a Robertsonian translocation?

A

two acrocentric chromosomes stuck end to end

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

What is Edwards syndrome?

A

an extra chromosome 18

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

Why is X chromosome aneuploidy sometimes not as bad?

A

due to X inactivation

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

What are the results of a large or a small translocation of DNA?

A
  • large results in miscarriage

- small results in large child malformations

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

What is aCGH?

A

first line test which finds polymorphisms but doesn’t detect balanced arrangements

17
Q

What is FISH used for?

A

to identify DNA segements

18
Q

What is mosaicism?

A

being composed of cells of two genetically different types so there is two genetic makeups

19
Q

What can somatic mosaicism contribute to?

A

for a chromosome abnormality it can contribute to cancer

20
Q

How are individual DNA sequences analysed?

A

PCR and sequencing

21
Q

What is next generation sequencing good for?

A

large scale cheap sequencing for a whole genome or exome

22
Q

What is the non-coding part of DNA involved in?

A

regulation of genes
spaces genes out
insulates genes from promoters

23
Q

What is c. for?

A

complementary or coding so effects the mRNA

24
Q

What is p. for?

A

protein so affects the peptide chain

25
Q

What does a change in the promoter or spice sequence do?

A

stops transcription or causes abnormal splicing

26
Q

What is penetrance?

A

likelihood of having the disease if you have a mutation

27
Q

What are Mendelian disorders?

A

segregate in families according to Mendel’s law

28
Q

Why do females show some characteristics of X linked disease?

A

X inactivation

29
Q

What type of disease is cancer?

A

a disease of mosaicism caused by post-zygotic mutations

30
Q

What are the characteristics that cell acquire on the way to becoming cancerous?

A
  • proliferation
  • evading immune response
  • acquiring vascular supply
  • avoiding apoptosis
  • metastasis
31
Q

What are driver mutations?

A

drive carcinogenesis

32
Q

What are passenger mutations?

A

incidental mutations that happen because the tumour is unstable

33
Q

What is DNA methylation?

A

adding a methyl to a cytosine base leading to repression of transcription

34
Q

What can methylation cause in cancer?

A

gene silencing

35
Q

Why is the methylation of cytosine a problem?

A

it is then one deamination away from being a thymine which could be a series mutation

36
Q

What are the characteristics of cancer determined by?

A

its driver mutations not by its tissue of origin

37
Q

What things can a gene be activated by?

A
  • duplication
  • activation of gene promoter
  • change in amino acid sequence
38
Q

How can cancer be analysed?

A

by genetic sequence or by light microscpoy

39
Q

What are the features of predisposition to cancer?

A

it is monogenic or multifactorial

My Principles (13 decks)

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