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Lecture 5
Genomics
27
Veterinary Medicine
Not Applicable
02/25/2017

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Cards

Term
What is the difference between genetics vs genomics?
Definition
Genetics = monogenic disorders

Genomics = polygenic disorders (mutations + normal physiology + evolution)
Term
What mode of inheritance does HYPP follow?
What chromosome & gene(s) is it associated with?
What type of mutation is it?
Definition
autosomal co-dominance
ECA 11 / SCN4A
missense (G is substituted for C)
Term
True or False

HYPP horses are sensitive to K+
Definition
true, extracellular K+ lowers the membrane excitation threshold of muscle cells
Term
Describe the pathway followed/effect of potassium in HYPP patients
Definition
the diagrammm
Term
True or False

>50% of elite halter horses carry SCN4A allele
Definition
true
Term
What allele/gene mutation is associated with HYPP?
Definition
SCN4A
Term
How might you go about treating horses with HYPP?
Definition
Want to drive K+ into cells
-sugar entering cells also promotes K+ uptake, so giving glucose + insulin helps

-promote K+ excretion e.g. furosemide

-restrict K+ in diet
Term
What mode of inheritance does PSSM follow?
What chromosome & gene is it associated with?
Definition
autosomal dominant
ECA10 / GYS1
Term
What gene is associated with PSSM?
Definition
GYS 1
Term
What is the physiology behind PSSM Type 1?
Definition
Sensitivity to insulin = very rapid cellular uptake of glucose & conversion to glycogen
Term
Symptoms of PSSM 1
Definition
-rhabdomyelosis, muscle atrophy, muscle weakness esp. in hindquarters, muscle soreness etc
Term
A biopsy indicates PAS positive polysaccharide inclusions within muscle tissue, what is the most likely issue?
Definition
PSSM 1
Term
How do you treat & manage PSSM?
Definition
Treat: rest, fluids, NSAIDS, sedatives

Mangement: low CHO diet, supplemental fat in diet, lots of turnout & regular gentle exercise
Term
Which type of PSSM can be genetically tested for?
Definition
PSSM 1
Term
A thoroughbred with abnormal glycogen storage in muscle cells is most likely affected by (PSSM 1 / PSSM 2)
Definition
PSSM 2

(TBs, Arabs not typically affected by PSSM 1)
Term
What mode of inheritance does HERDA follow?
What chromosome / gene is associated?
Definition
autosomal recessive
ECA 1 / PPIB
Term
What is the physiological problem occurring in horses with HERDA?
Definition
thin collagen fibers within the dermal tissue = skin is fragile and excessively elastic
Term
True or False

Mares affected with HERDA are at high risk of mortality during foaling
Definition
false
Term
What is the developmental abnormality that leads to overo lethal white syndrome?
Definition
-in normal embryo development melanocytes & myenteric gangliocytes migrate from the neural crest to the skin & GI tract
-failure to migrate = white skin, dysfunctional peristalsis bc myenteric plexus is absent
Term
The EDNRB gene is associated with what disease?
Definition
ileocolonic aganglionosis (lethal white syndrome)
Term
Genetic diseases are best managed....
Definition
proactively! test & evaluate before purchase/breeding!
Term
What are some important management considerations when breeding animals at risk of genetic diseases?
Definition
Dominant traits SHOULD NOT BE BRED EVER.

Recessive traits with delayed onset may go unnoticed for a while (until offspring mature) - important to consider!

Recessive traits can possibly be bred out with careful management. Poor management will simply spread the undesireable allele more, making it difficult to avoid carrier-carrier matings in the future

Managing polygenic diseases (e.e. RAO/COPD, suspensory failure etc.) is very difficult
Term
Brown swiss cattle are prone to...
Definition
weaver (bovine progressive degenerative myeloencephalopathy)
=progress loss of hindlimb coordination

Spinal dysmyelination

Spinal muscular atrophy
Term
Jersey cattle are prone to...
Definition
limber leg = rotated shoulder & hip joints = can't stand

Rectovaginal constriction
Term
True or False

Scrapie in sheep is a genetic disease
Definition
False! but susceptibility to it is genetically determined
Term
What type of sheep are most resistant to scrapie?
Definition
ARR/ARR genotype
Term
What type of sheep are most susceptible to scrapie?
Definition
ARQ/ARQ, VRQ/ARK or VRQ/VRQ
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