Genetics And Inheritance Flashcards

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1
Q

What is variation?

A

Differences between individuals

Often caused by mutations

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2
Q

What is the phenotype?

A

The visible characteristics of an organism

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3
Q

Define genotype

A

The genes that an organism has

Genetic make up

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4
Q

Define karyotype

A

The number and visual appearance of the chromosomes in a cell

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5
Q

Give examples of types of mutagens

A

Physical: X-rays gamma rays uv light

Chemical: reactive oxygen species or mustard gas

Biological: some viruses food contaminants. Jumping genes

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6
Q

What are the different types of chromosome mutations?

A
Deletion
Inversion
Translocation
Duplication
Non disjunction
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7
Q

What is a diploid cell?

A

A cell or organism consisting of two sets of chromosomes

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8
Q

Define a haploid cell

A

Half the diploid number of a somatic cell

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9
Q

How does genetic variation arise from sexual reproduction?

A

In meiosis:

Allele shuffling (crossing over) in prophase 1

Independent assortment of chromosomes in metaphase 1

Independent assortment of chromatids in metaphase/anaphase 2

Also from random fertilisation

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10
Q

What environmental factors affect genetic variation

A

Accents
Body modification
Injuries

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11
Q

Define an allele

A

A version of a gene. (R & r) one gene but two alleles

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12
Q

Define dominant allele

A

Only one copy required to express the phenotype whether it is paired with a hetero or homozygous allele

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13
Q

Define recessive allele?

A

Two homozygous alleles required in order for the phenotype to be expressed

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14
Q

Define heterozygous alleles

A

Different alleles at a particular gene locus

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15
Q

Define homozygous alleles

A

Identical alleles at a particular gene locus

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16
Q

Who was Gregor Mendel?

A

Carried out the pea plant experiment to deduce the monogenic inheritance ratio

(Used pea plants as they are easy to grow and can be cross fertilised)

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17
Q

What is mono hybrid inheritance?

A

Where one characteristic is inherited

18
Q

How can you deduce the genotype from the phenotype?

A

Carry out a cross with a known strain and look at the phenotypic ratio of the offspring

19
Q

What is dihybrid inheritance?

A

The simultaneous inheritance of 2 different characteristics

20
Q

What is the expected phenotypic ration with a monohybrid cross?

A

3:1

21
Q

What is the expected phenotypic ratio with a dihybrid cross?

A

9:3:3:1

22
Q

What assumptions are made when carrying out a dihybrid cross?

A

The 2 traits are inherited independently

The two traits are on separate chromosomes

23
Q

What is sex linkage?

A

Any gene that is carried on the X or Y chromosome is said to be sex linked

24
Q

Why are there potential problems with sex linked inherited genes?

A

The X chromosome is a lot longer than the Y-chromosome and therefore there is often not the dominant allele on the Y chromosome to pair up with the X chromosome

25
Q

What is haemophilia?

A

Condition where the blood cannot clot fast enough due to a deficiency in the X chromosome

(Therefore haemophilia is a sex linked genetic disorder)

26
Q

What is codominance?

A

Where both alleles present in the genotype of a heterozygous individual are express in the phenotype

27
Q

Give an example of codominant genes.

A

Blood group

I^a I^b are codominant and both dominant over I^o

28
Q

What is autosomal linkage?

A

Where two genes present on the Same chromosome (not sex chromosome) are inherited together.

29
Q

How may autosomal linkage occur?

A

Due to crossing over (chiasmata)

30
Q

Why can’t we predict the phenotype of offspring with autosomal linkage using a punnet square and what do we use instead?

A

Since we cannot predict the number of gametes (recombinant gametes)

Instead we use the chi squared test

31
Q

What do we use the chi squared test for?

A

Used to determine if the difference between the observed and expected results are significantly

32
Q

What is epistasis?

A

The interaction on non linked genes where one gene masks the effect of another

33
Q

Define recessive epistasis

A

When the recessive allele masks the effect of either allele on the second gene

34
Q

Define dominant epistasis

A

When the dominant allele is one gene masks the effect of either allele on the second gene

35
Q

What is the Hardy Weinburg equation?

A

P^2 + 2pq + q^2 = 1

P = frequency of dominant allele

Q = frequency of recessive allele

36
Q

What is the Hardy Weinburg principle?

A

The proportion of dominant and recessive alleles of any gene in a population remains the same from one generation to the next if the conditions are met.

P + q = 1

37
Q

What are the Hardy Weinburg conditions/ assumptions?

A

No mutations arise

The population is isolated

No selection occurs

Large population

Random mating

38
Q

How do you work out degrees of freedom?

A

Number of classes - 1

39
Q

What do a small or large chi squared mean?

A

Small chi squared = fits the expected ratio

Large chi squared = does not fit the expected ratio

40
Q

What happens if chi squared is greater than the critical value?

A

The difference between the observed and expected ratios is statistically significant and therefore we can reject the null hypothesis

41
Q

What happens if chi squared is less than the critical value?

A

The difference between the observed and expected ratio is not statistically significant and therefore we accept the null hypothesis