Genotype Phenotype + Inheritance Flashcards

1
Q

What is a phenotype?

A

The observable characteristics of an indivual
Resulting from the interaction of its genotype with the environment

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2
Q

What does it mean that humans are diploids?

A

Two copies of each gene
One maternal and one paternal

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3
Q

What is an allele?

A

A different version of the same gene
At the same position on a chromosome

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4
Q

How many alleles does an individual have?

A

Two copies of each gene

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5
Q

What do homozygous, heterozygous and hemizygous mean?

A

Homo - the two alleles of a gene are the same

Hetero - the two alleles of a gene are the different

Hemi - only one allele of gene on the X chromosome

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6
Q

What does codominant mean?

A

Equal influence of two alleles on a phenotype
Neither allele can mask the expression of the other

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7
Q

What does autosomal mean?

A

Not sex linked

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8
Q

What is a pedigree tree used for?

A

For genetic counselling - calculate the probability of inheritance

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9
Q

What type of inheritance are men and women unequally affected?

A

X linked recessive

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10
Q

What type of inheritance can skip a generation?

A

Autosomal recessive

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11
Q

What does polygenic inheritance mean?
Give some examples

A

Phenotypes are influenced by multiple genes
Obesity, cancer

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12
Q

If there is no info on an husband or wife in a pedigree tree what is their probability?

A

Assume the one in the question

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13
Q

What does monogenic inheritance mean?

A

Phenotypes are influenced by one gene

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14
Q

What is linkage?
What does it result in?

A

Genes do not show independent assortment during meiosis

Increases the chance that alleles are inherited together

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15
Q

What happens to genes on the same chromosome?

A

They are linked

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16
Q

What is an important factor in linkage?
Explain

A

Distance

Closer = alleles more likely to be inherited together

17
Q

What are haplotypes?

A

Blocks of linkage on chromosomes

18
Q

What is penetrance?

A

It describes whether there is a clinical expression of a phenotype in a person

19
Q

What is expressivity?

A

Describes the difference in clinical presentation between two people with the same genotype

20
Q

What are the three properties of a genetic code?

A

Specific

Universal

Degenerative

21
Q

How is the degenerative nature related to mutations?

A

Substitutions may or may not change the amino acid