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

A

Karyotype

21
Q

Maine Coon hypertrophic cardiomyopathy is caused by what mutation?

A

A31P

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
Q

Proteins in the ABC superfamily are responsible for what?

A

Transporting substrates (mainly drugs) across biologic membranes using ATP

26
Q

P-glycoprotein is encoded for by what gene?

A

ABCB1 (formerly MDR1)

27
Q

What genetic mutation in 75% of Collies and 50% of Australian shepherds leads to increased drug sensitivity?

A

4 base pair deletion in ABCB1, which causes a frame shift mutation and premature stop codon - protein is truncated and non-functional

28
Q

You should test for ABCB1 mutations before treating patients with which chemotherapeutics?

A

Vincristine, vinblastine, doxorubicin

29
Q

Name 3 drugs that should never be given to dogs with ABCB1 mutations

A

Ivermectin, loperamide, moxidectin

30
Q

What drugs can inhibit P glycoprotein (causing clinical signs similar to a mutation in ABCB1)?

A

Ketoconazole, spinosad (insecticide used for flea/tick - Comfortis)

31
Q

65% of what non-herding breed is positive for ABCB1 mutations?

A

Long haired whippets

32
Q

Dogs that were homozygous for ABCB1 mutations had higher sedation scores than dogs with normal ABCB1 function after receiving what medication?

A

Acepromazine