Clinical Genetics

Question 1

Describe the MDR1 gene mutation.

Answer 1

Dominant mutation in herding dogs
Increased susceptibility to drug toxicosis
A number of drugs affected, including ivermectin, milbemycin and selamectin (preventative healthcare)
Genetic testing available

Question 2

Describe the cytochrome P450 mutation.

Answer 2

Greyhounds
Affects ability to clear anaesthetic drugs (longer recovery)
No genetic testing available yet

Question 3

What cat breeds are more likely to be blood type A?

Answer 3

DSH, Siamese, Maine Coon, American Shorthair, Bengal, Norwegian Forest

Question 4

What cat breeds are more likely to be blood type B?

Answer 4

Birmans, British Shorthair, Devon Rex, Cornish Rex, Ragdoll, Turkish Angora, Turkish Van

Question 5

What health screening schemes do the Kennel Club run?

Answer 5

Hip scheme
Elbow scheme
Eye scheme
Chiara malformation/syringomyelia scheme
Respiratory function grading scheme
Heart scheme for Cavalier King Charles spaniels

Question 6

Describe the KC hip scheme.

Answer 6

VD radiograph of pelvis, hips and femurs
Strict guidelines on positioning and identification
Judged by a panel of vet radiologists
Score for each hip - the lower, the better
Problem - dogs with likely poor scores often not submitted

Question 7

Describe the KC elbow scheme.

Answer 7

Medio-lateral radiograph of both elbows
Strict guidelines on positioning and identification
Judged by a panel of vet radiologists - lower score = better

Question 8

Describe the KC eye scheme.

Answer 8

Panel of vet ophthalmologists
Screen for 12 hereditary eye conditions in 65 breeds - collie eye anomaly, lens luxation, glaucoma, progressive retinal atrophy etc.
Other conditions and breeds under investigation

Question 9

Describe the KC chiara malformation/syringomyelia (CM/SM) scheme.

Answer 9

MRI to screen for CM/SM
Cavalier King Charles spaniels and Griffon Bruxellois
> 1 year of age

Question 10

Describe the KC respiratory function grading scheme.

Answer 10

Bulldogs, French Bulldogs, Pugs
Examined at rest and then after 3 mins of vigorous exercise
Grade 0-3

Question 11

Describe the KC heart scheme for Cavalier King Charles spaniels.

Answer 11

Murmur, grade 0-3+
Mitral valve prolapse, grade 0-3
Dogs assigned risk of developing clinical MVD and risk of passing condition to any offspring by a traffic light system
It depends on age at testing where the grades fall in the traffic light system

Question 12

How do we collect samples for genetic testing of cats?

Answer 12

Mouth swabs
Between cheek and gums, rotated several times, repeat on other side
Keep samples separate and send off for testing asap - bacteria and fungi can grow quickly on swabs

Question 13

Why do we genetically test cats?

Answer 13

Helps manage breeding programs

Only way to detect late onset diseases or carrier status before breeding