Genotype And Phenotype/ Linkage Flashcards

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1
Q

What are the 3 dominance relationships between genotypes and phenotypes

A

Complete- where 1 allele clearly dominant and so offspring is replica of that allele/phenotype

Incomplete - where F1 offsprings don’t resemble either of parents (the dominance of the alleles not enough

Codominant - where both alleles are dominant to eachother and expressed in F1 phenotype

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2
Q

How is blood group A B O an example of codominance

A

There are 3 alleles for blood group

IO is recessive to IA and IB

IA and IB if present together are dominant and the blood group is AB

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3
Q

What is pleiotrophy

A

Where some genes or alleles can affect many characteristics at once

Eg in Manx cats the ML allele can disrupt spinal development (no tail) and another characteristic is its lethal, causing death if present twice

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4
Q

An epistatic gene is able to modify or mask phenotype as another genes expression is masked

What is the gene masked called

A

Hypostatic gene

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5
Q

What is penetrance as a principle

A

Sometimes a genotype doesn’t always show the same phenotype

Penetrance is how many members with a particular genotype (alleles) show the expected phenotype

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6
Q

Give an example of penetrance of the brca 1 gene

A

Brca is present in both men and women causing cancer, however the mutation is more likely to cause phenotype of cancer in men than women

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7
Q

What is it called when some disorders show different signs and symptoms in different people?

A

Variable expressivity

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8
Q

How is polydactyly an example of both incomplete penetrance and expressive variability

A

Incomplete penetrance- children with phenotype more likely to get it than parents with same genotype

Expressive variability - because it can affect either toes or hands

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9
Q

What else can affect penetrance and expressivity

A

Other genes or the environment

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10
Q

How are thermosensitve alleles an example of how environment affects expression

A

The alleles might not work depending on temperature

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11
Q

What is complementation analysis

A

Screening through mutants with same phenotype to see how many genes involved

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12
Q

What is complementation in a complementation analysis

A

When there are 2 genes involved in a phenotype/disorder and the offspring inherits them they don’t express the phenotype(not a mutant) - complementary genes

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13
Q

What is a complementation group

A

A set of mutations on the same chromosomal locus (same gene)

This does not cause complementation when crossed (still mutant)

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14
Q

What alleles need to be present for complementation analysis to work

A

A recessive allele

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15
Q

How would intragenic complementation affect complementation analysis

A

It wouldn’t work as complementation would occur even if mutations in 1 gene present

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16
Q

Genes close together on chromosomes, inherited together are called linked (linkage)

How are genes seperated creating non parental genotypes?

A

Recombination / crossing over

Independent assortment of genes on different chromosomes

17
Q

How would you follow linkage patterns? 2 ways

A

You could follow dna via a marker

Or do genetic crosses which would show recombinant in phenotypes (non parents genotypes)

18
Q

Which generation and genotypes would you use in a test cross to see linkage/ recombination

A

You would use the F2 generation

1 homozygous recessive for both genes - wwvv - purple eyes and vestigial wings

1 heterozygous for both genes - WwVv - normal and normal

19
Q

What would the ratio be if genes were unlinked in a cross of both recessive homozygous and heterozygous for both genes

A

1:1:1:1 ratio

20
Q

Which combinations are present more if genes are linked after a cross

A

The parental combinations

So either both normal eyes and wings

Or both mutant characteristic purple eyes and vestigial wings

21
Q

Why is there non parental genotypes found in crosses of genes are linked

Eg purple eyes but normal wings

A

There has been recombination happened

So some offspring have purple eyes but normal wings vice versa

22
Q

How would you calculate the genetic distance between genes such as purple eyes and vestigial wings

A

Recombination frequency

23
Q

How do you calculate recombination frequency

A

Number of recombinant offspring / total offsprings

X 100

= recombination frequency %

24
Q

What unit is used in a map unit of the genetic distance between genes

A

cM

Centimorgans are how far on chromosomes genes are

(Depending on recombination frequency)

25
Q

Why are genetic maps using genetic crosses not colinear to physical maps

A

Recombination has hot spots - it is not random

This would drive some genes further apart and some genes would still be close if recombination hasn’t occurred

26
Q

Why is understanding recombination frequency important

A

Can work out what stimulates recombinations in genes / why areas are prone

Understanding linkage is important to track mutations