BGM1004/L14 Inheritance III Flashcards

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1
Q

Define penetrance.

A

Proportion of a population with a particular gene mutation or exhibiting signs and symptoms

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2
Q

Define expressivity.

A

The degree to which a genotype is expressed as a phenotype in an individual

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3
Q

Define pleiotrophy.

A

When a single gene locus affects two or more apparently unrelated phenotypic traits

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4
Q

Define epistasis.

A

When expression of one gene is modified by expression one or more other genes

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5
Q

Define complementation.

A

Interaction between genes where multiple genes affect the same phenotype

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6
Q

Give an example of codominance in humans.

A

A and B blood groups

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7
Q

Define incomplete dominance.

A

Where both alleles of a gene locus are partially expressed, often resulting in a different phenotype

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8
Q

Give an example of pleiotropy.

A

Dominant ML allele in cats
Causes manx phenotype and recessive is lethal

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9
Q

How would a gene that is masked by another described?

A

Hypostatic

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10
Q

Give an example of an epistatic gene.

A

Labrador coat colour
Yellow ‘e’ epistatic to ‘B’ black and ‘b’ chocolate on different gene
Adenine biosynthesis in yeast
Any mutation that causes mitochondrial function loss yields white colonies

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11
Q

If 15% of a population exhibit the wild-type phenotype, what is the penetrance?

A

85%

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12
Q

What can expressivity and penetrance depend on?

A

Interaction with other genes
Environmental influences

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13
Q

Why does polydactyly exhibit incomplete penetrance?

A

Children with extra digits are born to parents with a normal number

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14
Q

Why does polydactyly exhibit variable expressivity?

A

Some individuals have one extra finger, others have extra digits on each hand and foot

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15
Q

Give an example of where temperature affects gene expression.

A

Siamese cats
Homozygous for a thermosensitive allele encoding melanin enzyme production
Does not work at normal body temperature

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16
Q

What is a complementation group?

A

A set of mutations mapping to the same chromosomal locus that fail to complement each other when crossed

17
Q

What kind of allele is required for complementation analysis?

A

Recessive

18
Q

What is interagency complementation and what can it do to complementation analysis?

A

Proteins with multiple functions or multimer-forming
Destroys analysis

19
Q

Describe gene linkage.

A

When genes are (close) on the same chromosome, they are linked and co-segregate in crosses

20
Q

What is a chiasma?

A

A physical connection between non-sister chromatids during meiosis

21
Q

How are non-parental genotypes created?

A

Independent assortment of genes on different chromosomes
Breakage and rejoining of homologous chromosomes during meiosis

22
Q

What is required to follow linkage and recombination?

A

Follow each piece of DNA through a marker
Use a genetic cross where recombination/assortment can be seen through phenotypes

23
Q

Give the 2 steps in test crosses for 2 genes/traits.

A

Construct a double heterozygote cross
Cross double heterozygote with tester homozygous recessive for both traits (back cross)

24
Q

What is the recombination frequency?

A

No. (recombinants/total progeny) x100

25
Q

What is one centimorgan (cM)?

A

If recombination is observed between two loci in 1% of meiosis