Question 1

Which genetic technique does Embark use to analyze over 200,000 SNPs in dogs?

Accepted Answer

Illumina canine HD array genotyping chip

Question 2

What is the primary function of the SOD1 gene product in cells?

Accepted Answer

Maintains reactive oxygen species (ROS) homeostasis by converting superoxide radicals to hydrogen peroxide

Question 3

A dog with the AA genotype for the SOD1 gene is at risk for degenerative myelopathy. However, not all dogs with this genotype develop the disease. What genetic concept does this illustrate?

Accepted Answer

Incomplete penetrance

Question 4

In the Illumina genotyping chip, how are different SNP alleles detected?

Accepted Answer

By the color emitted from fluorescent labels attached to single base extensions

Question 5

Which equation correctly represents the reaction catalyzed by superoxide dismutase (SOD1)?

Accepted Answer

$$2O_2^- + 2H^+ \rightarrow O_2$ + H_2O_2$$

Question 6

A missense mutation in SOD1 replaces glutamic acid (E40) with lysine (K91), disrupting a salt bridge. What is the likely consequence of this mutation?

Accepted Answer

Formation of amyloid-like protein aggregates and gain-of-toxic function

Question 7

Why do huskies have blue eyes according to Embark’s genetic analysis?

Accepted Answer

Genome duplication leading to increased expression of the ALX4 gene

Question 8

Which genotype for the T-box transcription factor is lethal in Australian Shepherds?

Accepted Answer

GG

Question 9

What is the role of PCR in the Embark genetic testing workflow?

Accepted Answer

To amplify genomic regions containing SNPs for analysis

Question 10

Which of the following is a real-world application of genetic testing in dogs as described in the Embark study?

Accepted Answer

Predicting breed mix and identifying DNA relatives

Question 11

A breeder wants to avoid producing puppies with a recessive disorder. Which genetic testing strategy should they use?

Accepted Answer

Avoid pairing two dogs that are both heterozygous for the same breed-specific, recessive disorder

Question 12

Which gene is associated with differences in muzzle length among dog breeds?

Accepted Answer

BMP3

Question 13

What is the main goal of gene silencing therapy targeting SOD1 in dogs with degenerative myelopathy?

Accepted Answer

To increase the time an affected dog can be ambulatory

Question 14

Which of the following best describes the inheritance pattern of degenerative myelopathy in dogs?

Accepted Answer

Recessive with incomplete penetrance

Question 15

If a dog inherits both copies of the variant associated with degenerative myelopathy, what is the dog’s risk status according to Embark?

Accepted Answer

At risk

Question 16

Which of the following health problems is common in purebred Cavalier King Charles Spaniels?

Accepted Answer

Mitral valve disease

Question 17

What is the significance of long segments of chromosomal DNA being identical to known purebred dogs in breed analysis?

Accepted Answer

Shows relationship with that breed

Question 18

Which of the following is a potential con of genetic testing in dogs?

Accepted Answer

Unexpected results can be stressful for owners

Question 19

In the context of the Dalmatian/Pointer backcross project, what was the main genetic goal?

Accepted Answer

To unlink high uric acid production from the Dalmatian’s spotted coat

Question 20

Which of the following best explains how the Illumina scanner distinguishes between different genotypes at a SNP locus?

Accepted Answer

By detecting the color emitted from fluorescently labeled nucleotides added during single base extension

Genetic Testing in Dogs: Sep 15

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