Genetics Flashcards

1
Q

What is fitness?

A

Relative ability of an organism to survive and pass on genes

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

What is phenotype?

A

Set of observable characteristics resulting from an interaction of the genotype and environment

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

What is genotype?

A

Set of genes in our DNA responsible for traits

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

How is genotype frequency calculated?

A

No of people with certain genotype/total number in sample

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

How is allele frequency calculated?

A

No of times a certain allele is seen/total no of alleles

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

What is the Hardy-Weinberg equilibrium?

A

Allele frequencies remain constant from generation to generation

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

What assumptions underlie the Hardy-Weinberg principle?

A
Mutation can be ignored
Migration is negligible 
Mating is random
No selective pressure
Population size is large
Allele frequencies equal in the sexes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is natural selection?

A

Gradual process by which biological traits become more or less common in a population due to their fitness

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

What is negative selection?

A

Reduces fitness and decreases in frequency

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

What is positive selection?

A

Increases fitness and increases in frequency

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

What is genetic drift?

A

Random fluctuation of allele frequency in a small population

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

What is the founder effect?

A

Reduction of genetic variation when a small subunit of a large population establish a new colony

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

What is the first law of Mendelian inheritance?

A

Law of segregation

During gamete formation, alleles segregate from each other so each gamete carries only one allele for the gene

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

What is the second law of Mendelian inheritance?

A

Law of independent assortment

Gametes for different traits can segregate independently during the formation of gametes

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

What is the third law of Mendelian inheritance?

A

Law of dominance

Some alleles are dominant while others are recessive

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

What is non-Mendelian inheritance?

A

Any pattern of inheritance in which traits do not segregate in accordance with Mendel’s laws

17
Q

What is penetrance?

A

Frequency which which a trait is manifested by individuals carrying the gene

18
Q

What are genetic modifiers?

A

Genes which have on effect on the level of expression of another gene

19
Q

What happens in genomic imprinting?

A

Only one working copy of a gene- one has been silenced

Child is mono-allelic

20
Q

What is uniparental disomy?

A

When a child has 2 copies of a chromosome from one parent and none from the other

21
Q

What are gyogenic genes?

A

2 maternal genomes

22
Q

What are androgenic genes?

A

2 paternal genomes

23
Q

What is special about mitochondrial inheritance?

A

All mitochondrial DNA inherited from mother

24
Q

What is homoplasmy?

A

Uniform mitochondrial DNA with no disease

25
Q

What is herteroplasmy?

A

2 or more forms of mitochondrial DNA that can cause disease

26
Q

What are proto-oncogenes?

A

Normal gene that regulates for cell growth and differentiation

27
Q

What does a photo-oncogene mutation cause?

A

Forms an oncogene that accelerates cell division

28
Q

What are tumour suppressor genes?

A

Genes that act as “brakes” by inhibiting the cell cycle and/or inducing apoptosis

29
Q

What are mismatch repair genes?

A

Corrects errors made during DNA replication e.g. single base mismatches

30
Q

What causes genetic retinoblastoma?

A

A mutation in the RB1 tumour suppressor gene

31
Q

What is BRCA1?

A

Checkpoint meditato involved in DNA damage signalling and repair
Mutation increases risk of primary breast cancer and ovarian cancer

32
Q

What is BRCA2?

A

Repairs DNA by homologous recombination

Mutation increases risk of breast cancer and ovarian cancer

33
Q

What are some hereditary colorectal cancer syndromes?

A

Familial adenomatous polyposis

MYH associated polyposis