GENETIC

Question 1

QH Test available and mandatory?

Answer 1

HYPP, MH, PSSM1, GBED, MYHM, HERDA

Mandatory for stallions >or=25mares/y

HYPP homozygotes can’t be registered

MYHM required after 2023

ACVIM 2024

Question 2

Paint Test available and mandatory?

Answer 2

same as QH: HYPP, MH, PSSM1, HERDA, MYHM (not required) but + LWFS

Question 3

ArabianTest available and mandatory?

Answer 3

volutary but not mandatory -> SCID, LFS (lavender), CA, OAAM1

Question 4

BelgianTest available and mandatory?

Answer 4

JEB mandatory for breeding stallions

Question 5

SaddlebreTest available and mandatory?

Answer 5

voluntary -> JEB. Same gene with Belgian but different mutation

Question 6

Shetlandpony Test available and mandatory?

Answer 6

skeletal atavism test available (fusion pbl bones -> 6 months can”t walk)

Question 7

American miniature, shetland Test available and mandatory?

Answer 7

available: Dwarfism: D2/D2 Dwarf, D3/D4 (deformed), D1/D1: aborted

Question 8

belgian draft Test available and mandatory?

Answer 8

available: hydrocephalus

Question 9

friesian draft Test available and mandatory?

Answer 9

available hydrocephalus, dwarfism, distichiasis

Question 10

WB/TB Test available and mandatory?

Answer 10

available FFS. TB as well! Allele frscy 1.2%

Question 11

Connemara Test available and mandatory?

Answer 11

available Hoof wall separation disease. Early 6 months of life.

Question 12

Haflinger, belgian, percheron?

Answer 12

Ocular SCC

Question 13

TB?

Answer 13

Equine familial isolated hypoparathyroidism. RAPGEF5. Cystic structure. 1% TB. Refractory to calcium in foal or found dead

Question 14

equine genetic bleeding panel

Answer 14

hemophilia a, glanzmann thrombasthenia, atypical equine thrombasthenia.

Hemophilia a: fact 8 def, SB, TB, QH, Arab, TWH. X link recessive. Prologned aPTT, PT normal, fibrinogen decreased. MARE NORMAL COLT ISSUES? FILLIES OK;

FOAL with bleeding issues: hemophilia and glanzmann.
glanzmann itga2b, QH, TB peruvian oldenberg, normal coag, abnormal clot

Atypical equine thrombasthenia : SEL1, TB, Normal coag panel, abnormal clot retraction, fibrinogen bind. Only TB. Abnormal clot formation but not really bleeding; NOT affect template bleeding time. SEL1 in cell body of megakaryocytes. Less binding with collagen in homozygotes. The difference is not the time to attachment neither the occlusion but the numbers! Make sense in horses -> they can clot.
Important for repeating injury = phenotype
CL: decrease SEL1 prevent plt from adhering to collagen

Question 15

equine juvenile spinocerebellar ataxia?

Answer 15

Only QUARTER HORSES: Normal at birth and then sudden ataxia -> mostly the asymmetric pelvic limbs + hypermetric forelimbs. Rapid progression -> 5 days later can’t stand up! Difference from rapid progression vs trauma. Deterioration quickly despite treatment!
Resemble side winder but forelimbs affected as well.
Make turn and lose control.
Clinically its terrible but histologically not at all!
Spinal cord: saddle lesions! Myelin bulling, glial cells, digestion chambers, little bit of axons retraction. Similar to EDM but not spheroids in brainstem is fine! Affected foals have less FDXR than non-affected. In children-> pbl in optic nerve but in foals there are not blind. Autosoma recessive