Genetics Flashcards

(33 cards)

1
Q

What is fitness?

A

Relative ability of an organism to survive and pass on genes

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2
Q

What is phenotype?

A

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

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3
Q

What is genotype?

A

Set of genes in our DNA responsible for traits

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4
Q

How is genotype frequency calculated?

A

No of people with certain genotype/total number in sample

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5
Q

How is allele frequency calculated?

A

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

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6
Q

What is the Hardy-Weinberg equilibrium?

A

Allele frequencies remain constant from generation to generation

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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
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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

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9
Q

What is negative selection?

A

Reduces fitness and decreases in frequency

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10
Q

What is positive selection?

A

Increases fitness and increases in frequency

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11
Q

What is genetic drift?

A

Random fluctuation of allele frequency in a small population

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12
Q

What is the founder effect?

A

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

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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

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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

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15
Q

What is the third law of Mendelian inheritance?

A

Law of dominance

Some alleles are dominant while others are recessive

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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
What is herteroplasmy?
2 or more forms of mitochondrial DNA that can cause disease
26
What are proto-oncogenes?
Normal gene that regulates for cell growth and differentiation
27
What does a photo-oncogene mutation cause?
Forms an oncogene that accelerates cell division
28
What are tumour suppressor genes?
Genes that act as "brakes" by inhibiting the cell cycle and/or inducing apoptosis
29
What are mismatch repair genes?
Corrects errors made during DNA replication e.g. single base mismatches
30
What causes genetic retinoblastoma?
A mutation in the RB1 tumour suppressor gene
31
What is BRCA1?
Checkpoint meditato involved in DNA damage signalling and repair Mutation increases risk of primary breast cancer and ovarian cancer
32
What is BRCA2?
Repairs DNA by homologous recombination | Mutation increases risk of breast cancer and ovarian cancer
33
What are some hereditary colorectal cancer syndromes?
Familial adenomatous polyposis | MYH associated polyposis