Genotype, Phenotype and Inheritance Flashcards

1
Q

Define genotype.

A

The entire genetic makeup of an individual.

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2
Q

Define phenotype.

A

The physical characteristics that are expressed.

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3
Q

Define homozygous.

A

When an individual have two alleles of a gene that are the same.

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4
Q

Define heterozygous.

A

When an individual have two alleles of a gene that are different.

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5
Q

Define hemizygous.

A

Only one allele of a gene. This is usually on the X chromosome (Males only!)

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6
Q

Define dominant.

A

A dominant allele determines the phenotype. This means that in a heterozygote the dominant allele determines the phenotype.

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7
Q

Define recessive.

A

A recessive allele doesn’t usually determine the phenotype. In a heterozygote the recessive allele does not determine the phenotype.

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8
Q

Explain the difference between gene, genotype and alleles.

A

If a gene is ‘A’ the genotype will A1A2 or AA. The alleles will be A1 and A2.

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9
Q

Explain co-dominance.

A

For example in blood type which is determined by gene I there are three alleles: A, B and O or: IA, IB, and I0.
Both A and B are dominant over 0. However neither allele A or B are dominant over each other. This means they are co-dominant. This produces a produce a new phenotype.

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10
Q

What is the genotype and phenotype of blood group A?

A

Genotype: IAIA or IAI0
Phenotype: A

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11
Q

What is the genotype and phenotype of blood group B?

A

Genotype: IBIB or IBI0
Phenotype: B

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12
Q

What is the genotype and phenotype of blood group AB?

A

Genotype: IAIB
Phenotype: AB

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13
Q

What is the genotype and phenotype of blood group 0?

A

Genotype: I0I0
Phenotype: 0

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14
Q

What is a autosomal recessive disease?

A

A disease that is only expressed when the recessive allele can be expressed.

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15
Q

Will a heterozygote be affected by an autosomal recessive disease?

A

No heterozygotes are unaffected.

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16
Q

Are males and females equally affected?

A

Yes they are.

17
Q

What is the chance of two heterozygote autosomal recessive to have affected offspring?

A

25%.

18
Q

Give an example of an autosomal recessive disease.

A

Cystic fibrosis.

19
Q

Can an autosomal recessive disease skip a generation?

A

Yes it can. It can seems to come out of no where.

20
Q

What is autosomal dominant.

A

When heterozygotes are affected. The dominant allele determine the phenotype.

21
Q

Can homozygotes have an autosomal dominant disease?

A

Yes in case they have both the dominant alleles that means. This is however very rare because diseases in a homozygote are usually very severe so it is not usually suitable for life.

22
Q

Give an example of an autosomal dominant disease?

A

Huntington’s Disease.

23
Q

Can an autosomal dominant disease skip a generation?

A

No it can’t. This is because it can’t be carried without being expressed.

24
Q

What is an X-linked recessive disease?

A

A disease where the allele is locate on the X chromosome.

25
Q

Give some features of x-linked recessive.

A

Disease is more common in males. This is because males only have one X chromosome whereas females have two. This mean that males cannot have a dominant allele to ‘overthrow’ the recessive allele.

26
Q

What is the chance of a female carrier to have an affected son?

A

50%

27
Q

What is the chance of an affected male to have an affected son?

A

0% the X-chromosome from a father to a son can’t give X-chromosome to son, only Y-chromosome.

28
Q

How does mitochondrial inheritance work?

A

Al individuals will inherit the disease from their mother, never from father.

29
Q

What does polygenic inheritance entail?

A

That more than one gene can be involved in producing a phenotype.

30
Q

What are linked genes? (regarding polygenic inheritance)

A

Genes on the same chromosome.

31
Q

What are non-linked genes? (regarding polygenic inheritance)

A

Genes that are on different chromosomes.

32
Q

How do non-linked and linked genes differ more?

A

Linked genes do not show independent assortment at meiosis since they are on the same chromosome. However recombination can occur.

33
Q

What is recombination frequency in linked genes dependent on?

A

The distance between the genes. Tightly linked genes are less likely to undergo recombination.