Equine genetic diseases

Question 1

Heamophilia

Answer 1

Lethal factors, gene mutations

WW white, and OO over white spotting

Question 2

LWO

Answer 2

Lethal white ovara- Hirchsprung

• TC-AG mutation in endothelial b RC gene
• lack of colon ganglion
• AR
• colic and flatulence ion suckling foals, death of homozygotes

Question 3

Melanomatosis in grey

Answer 3

Disorder of melanocyte migration
benign melons n 15+ year horses
most breeds of grey colour
Clinical diagnosis

Question 4

HYPP

Answer 4

Hyperkalaemic periodic paralysis
mis sense, AD
Na channel disturbed in skeletal muscle
lameness, muscle weakness, paralysis, muscle

Question 5

SCID

Answer 5

frameshift nutation
SEVER COMBNINED
poor t and b lymphocyte, death after secondary inf when colostral immunity decreases
arab horse

Question 6

Equine polysaccharide storage myopathy

Answer 6

tying up
related to glycogen storage disorder
quarter hourse s

Question 7

HERDA

Answer 7

herditary equine regional term`l asthenia
hyperelastosis cutis
AR
collagen defect, layer of skin not held together

Question 8

GBED

Answer 8

glycogen branching enzyme deficiency
- no glycogen storage, cardiac and skeletal muscles cannot function
occurs in foals homozygous for lethal GBED allele