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BIO2133 > Genotype/Phenotype/Genome content > Flashcards

Genotype/Phenotype/Genome content Flashcards

1
Q

What is the polyadenylation ?

A

short sequence of the mRNA that has 3 functions:
- Terminator of the transcription (stops the RNA polymerase)
- Protects the mRNA from being digested
- Tells all the proteins to add the poly-A tail (which also protects the RNA from being digested

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2
Q

Complete : __ fuels natural selection

A

Mutations

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3
Q

What is the definition of an allele?

A

One of the possible alternative forms of a gene (different alleles may have different phenotypic effects)

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4
Q

What is the definition of a mutation

A

Heritable change in the DNA sequence or chromosome structure

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5
Q

What is a SNP

A

Single-nucleotide polymorphism
Variation (between genotypes) in one nucleotide pair

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6
Q

Describe the following:
- Monogenic trait
- Polygenic trait
- Pleitropic gene

A

Monogenic trait : a trait that is determined by one gene
Polygenic trait : a trait that is determined by multiple genes
Pleiotropic gnee : a gene that has affects multiple traits

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7
Q

The HBB gene is which type of gene ?

A

Pleiotropic

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8
Q

Difference between homozygous and heterozygous ?

A

Homozygous : individual with identicals alleles for a gene of interest
Heterozygous : Individual with different alleles at one or more loci

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9
Q

To express a recessive phenotype, the needs to have what ?

A

Homozygous for the recessive gene

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10
Q

What is a quantitative trait ?

A

Continuous trait whose expression depends on many genes with small, additive (sometimes interactive or dominants) effects

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11
Q

Describe the differences between quantitative traits and mendalian traits

A

Mendelian = discrete
Quantitative = continuous

Mendelian = one or a few genes determines the trait
Quantitative = many genes determine

Mendelian = high heritability
Quantitative = low to high heritability

Mendelian = lower influence of the environment
Quantitative = higher influence of the environment

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12
Q

Is Huntington’s disease an example of mendelian or quantitative trait ?

A

Mendelian

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13
Q

Are height, weight and blood pressure examples of mendelian or quantitative traits ?

A

Quantitative

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14
Q

True or false : the traits of one genotype can vary if they are affected by the environment

A

True

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15
Q

When a trait is coded by more than one gene, is the effect of the environment more continuous or discrete ?

A

Continuous (the variation is no longer discrete)

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16
Q

The phenotype is the result of what addition ?

A

P = G + E

P= Phenotype
G= genetic effect
E= Environmental effect

17
Q

How can we calculate a phenotypic variance within a population ?

A

Vp= Vg + Ve

Vp = Phenotypic variance
Vg = Genetic variance
Ve = Environmental variance

18
Q

How can we define Heritability (h^2) ?

A

Proportion of the variance in a trait among individuals that is attributable to differences in genotype (strength of inheritance)

Ex : trait with low heritability = it means that the phenotypic differences between individuals within a population can be attributed mostly to environmental differences (high Ve)

19
Q

How can we calculate heritability ?

A

h^2 = Vg/Vp

Vg = Genetic variance
Vp = Phenotypic variance

20
Q

what does it mean when we say that a trait has a genetic basis?

A

It means that genes influence the trait in some way
(applies to both mendelian and quantitative traits)

21
Q

Name reasons why heritibality may be low

A
  • Individuals in a population are similar genetically (low Vg)
  • Environmental factors contribute much more to differences between these individuals (high Ve) than genetic differences do
22
Q

Describe the genome content

A
  • 2% exons
  • 24% introns
  • 15% unique sequences not found in genes
  • 59% repetitive DNA sequences
23
Q

What are retrotransposons ?

A

Mobile genetic elements
- they are copied by an RNA intermediate
- They insert themselves at other chromosomal sites, often causing mutations

24
Q

Describe forward genetics

A

Trying to find the genes that are responsible for a condition (usually through gene mapping)

25
Q

Describe reverse genetics

A

Start from a known gene and try to find it’s function (by mutating only that gene or silencing) and see the difference in phenotypes of the mutated and non-mutated

26
Q

What type of genetic studies is used to identify a gene responsible for a known phenotype (without knowing the gene’s location)

A

Forward genetics

27
Q

What type of genetic studies is used to identify the function of a gene that has already been identified, isolated, cloned and sequenced?

A

Reverse genetics

BIO2133 (5 decks)

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