Horse: Most important genetic diseases of the horse Flashcards
1
Q
List the genetic diseases of the horse
A
- Haemophilia
- LWO
- Melanomatosis
- HYPP
- SCID
- EPSM
- HERDA
- GBED
2
Q
Equine Haemophilia
A
in WW & OO horses
3
Q
Equine LWO
A
Lethal white overo
- Endothelial β-receptor mutation
- Lack of colon ganglions (autosomal recessive)
- Colic + flatulence in foals
- Death in homozygotes
4
Q
Equine melanomatosis
A
- Seen in grey horses
- Benign melanomas
- Eyes
- Genital
- Anus
5
Q
Equine HYPP
A
Hyperkalemic periodic paralysis
- Autosomal dominant missense mutation
- Na+ channel function disturbed
- Lameness
- Muscle weakness/paralysis
6
Q
Equine SCID
A
Severe combined immunodeficiency
- Deletion in protein kinase genes
- Poor T-&B-Lymphocytes
- Death in foals (Arabs)
7
Q
EPSM
A
Equine polysaccharide storage myopathy
- Metabolic storage disorder
8
Q
Equine HERDA
A
Hereditary equine regional dermal asthenia
- Autosomal recessive
- Collagen defect
- Loose skin layers
9
Q
GBED
A
Glycogen branching enzyme deficiency
- No glycogen storage
- Death in homozygous foals