Brainscape's Knowledge GenomeTM

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


See full index

Y1 - Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

How many chromosomes does a person have?

A

46

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

What is mitosis?

A

A diploid parent produces 2 dipped daughter cells

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

What is meiosis?

A

A diploid parent produces 4 haploid daughter cells

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

What is crossing over?

A

Genes segregate independently even if on the same chromosome

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

What is the process of DNA to protein?

A

DNA
Pre-mRNA (spliced)
mRNA (transcription and translation)
Protein

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

What is a variant?

A

Any change to DNA sequence

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

What is a mutation?

A

Any heritable change to DNA

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

What is a polymorphism?

A

A variation in human genome with population frequency >1% or any variant that doesn’t cause disease in its own right

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

What is a somatic mutation?

A

One that occurs during mitosis

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

What is a germ line mutation?

A

One in the gamete before fertilisation

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

What is a post-zygotic mutation?

A

One that occurs in the child

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

What is robertsonian translocation?

A

Two acrocentric (missing the short arm - p) stuck end to end

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

What is a balanced translocation?

A

Sections of two chromosomes have switched places

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

What is aneuploidy?

A

A whole extra or missing chromosome

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

What is the mutation: 47XY +18?

A

Edward’s syndrome

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

What is the mutation: 45X?

A

Turner’s syndrome

17
Q

What is x-inactivation?

A

In females in each cell one X-chromosome is randomly switched off

18
Q

What is a good first-line test for things like Downs?

A

aCGH (array comparative genomic hybridisation)

19
Q

What is FISH good for?

A

Looking for translocations, deletions

20
Q

What is the reference sequence?

A

Commonest sequence in white north American Caucasian male

21
Q

What is penetrance?

A

The likelihood of having the disease if you have the mutation

22
Q

What is expression?

A

The variation in phenotype if you have the disease

23
Q

What is a Mendelian disorder?

A

A high penetrance monogenic disorders which segregate in families by Mende’s laws

24
Q

What are examples of Mendelian disorders?

A

Autosomal dominant/recessive
X linked
Mitochrondrial

25
Q

What are examples of non-mendelian monogenic disorders?

A

Methylation

Imprinting

26
Q

What are histones?

A

DNA strands associate with proteins called histones to be wound into chromosomes

27
Q

What are the differences of RNA compared to DNA?

A

Single stranded not double
Nucleic acid bases held on ribose (not deoxyribose) sugar backbone
Uracil instead of thymine

28
Q

What is the process of a cell cycle?

A

G1 - cells increase in size and cell contents duplicated
S - replication occurs
G2 - second growth phase in preparation for division
M - mitosis

Y1 - Principles (11 decks)

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