Genetics Flashcards

1
Q

How many chromosomes does the dog have?

A

38 autosomal pairs and 1 pair of sex chromosomes

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2
Q

How many chromosomes does the cat have?

A

18 autosomal pairs and 1 pair of sex chromosomes

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3
Q

For an autosomal recessive trait, what percent of offspring will be affected after mating two heterozygous parents?

A

25%

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4
Q

For an autosomal recessive trait, what percent of offspring will be affected after mating two homozygous affected parents?

A

100%

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5
Q

The most common mode of inheritance in dogs and cats is _____?

A

Autosomal recessive

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6
Q

Autosomal recessive nephritis (Alport syndrome) occurs in what breed of dog?

A

English Cocker Spaniel

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7
Q

Exercise induced collapse in Labradors is inherited by what mode?

A

Autosomal recessive

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8
Q

Cystinuria is inherited in an autosomal recessive manner in what dog breed?

A

Labrador Retriever

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9
Q

Cystinuria is inherited in an autosomal dominant manner in what dog breed?

A

Australian cattle dog

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10
Q

For an autosomal dominant trait, each affected offspring should have one parent that is _____?

A

Also affected (can be heterozygous or homozygous)

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11
Q

Polycystic kidney disease is inherited in what manner?

A

Autosomal dominant

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12
Q

Dilated cardiomyopathy in Doberman Pinschers is inherited in what manner?

A

Autosomal dominant

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13
Q

X lined myotubular myopathy is identified in what dog breed?

A

Rottweilers

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14
Q

The study of chromosomal number and shape is called ____

A

Cytogenetics

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15
Q

In genetics, what does the term expression refer to?

A

Variation in the clinical features of a genetic disorder (how severely affected the patient is)

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16
Q

What is a missense mutation?

A

A change in a single nucleotide that results in formation of a different amino acid than what is typically present

17
Q

What is a nonsense mutation?

A

A change in a single nucleotide that results in formation of a premature stop codon

18
Q

In genetics, what does the term penetrance refer to?

A

The proportion of individuals with a disease gene variant that will develop the disease. Complete penetrance = 100% of individuals have the disease. Incomplete penetrance = less than 100% develop the disease, despite having the gene mutation

19
Q

In genetics, what does the term polymorphism refer to?

A

Naturally occurring single base pair variants in the DNA sequence that do not cause disease and occur in at least 5% of the population

20
Q

All dogs/cats with abnormal sexual development or infertility should have this test performed

21
Q

Maine Coon hypertrophic cardiomyopathy is caused by what mutation?

22
Q

Describe the penetrance and expressivity of Maine Coon hypertrophic cardiomyopathy

A

Incomplete penetrance and variable expression

23
Q

What is pharmacogenetics?

A

The study of the impact of genetic variation on drug pharmacokinetics and pharmacodynamics

24
Q

What enzyme is responsible for metabolizing drugs such as azathioprine and 6-mercaptopurine?

A

Thiopurine methyltransferase

25
Proteins in the ABC superfamily are responsible for what?
Transporting substrates (mainly drugs) across biologic membranes using ATP
26
P-glycoprotein is encoded for by what gene?
ABCB1 (formerly MDR1)
27
What genetic mutation in 75% of Collies and 50% of Australian shepherds leads to increased drug sensitivity?
4 base pair deletion in ABCB1, which causes a frame shift mutation and premature stop codon - protein is truncated and non-functional
28
You should test for ABCB1 mutations before treating patients with which chemotherapeutics?
Vincristine, vinblastine, doxorubicin
29
Name 3 drugs that should never be given to dogs with ABCB1 mutations
Ivermectin, loperamide, moxidectin
30
What drugs can inhibit P glycoprotein (causing clinical signs similar to a mutation in ABCB1)?
Ketoconazole, spinosad (insecticide used for flea/tick - Comfortis)
31
65% of what non-herding breed is positive for ABCB1 mutations?
Long haired whippets
32
Dogs that were homozygous for ABCB1 mutations had higher sedation scores than dogs with normal ABCB1 function after receiving what medication?
Acepromazine