Anomalije u Goveda

7/30/2019 Anomalije u Goveda

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Genetic and congenital diseases

Diseases of Food Animals and Horses PATB 4110

Congenital malformations in PEOPLE

(live births)

Genetic Chromosomal: 10 15%

Mendelian:2 10%

Environmental Maternal infections: 2 3%

Maternaldiseases: 6 8%

Multifactorial: 20 25%

Drug and chemical: 1%

Irradiation: 1%

Unknown: 40 60%

Diseases with genetic component

- human

Autosomal X-linked Y-linked Mitochondrial

Described

Gene known

2080 192 2 26

Described

Gene unknown

1948 140 5 0

Genetic diseases characterized at

molecular level domestic

animals

Cattle Sheep Horses Pigs

40 16 14 30

Congenital defects in cattle of unknown origin

Schistosomus reflexus Contracted tendons

Umbilical hernia multiple genes most common defect in cattle

Schistosomasreflexus unknown

Two-headed calves - unknown

Anencephaly unknown

Absence of cerebellum unknown

Chromosomal anomalies many unknown

Estimated frequency of

congenital disorders in cattle

CNS

Muscles

Anomalous twins

1:100 1:500

21.6%Systemic

Body cavity

Digestive

Urinary

Bone

Heart

Skin

Others

13.7%10.0%

9.7%


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Congenital defects

Genetic Most commonly, homozygous recessives

Selection by inadvertent linkage to a desired trait Milk production and weaver trait in Brown Swiss

Lean carcass and porcine stress syndrome

Some dominant

Chromosomal abnormalities can result in resorption,early abortion or malformation (esp. dwarfism orinfertility)

Environmental Infectious: BVD; BTV;Neospora

Teratogenic plants: lupines and skunk cabbage

Nutritional: iodine and vitamin A deficiency

Suspect genetic defects when

More than one born in season, or several

Stereotyped appearance and outcome

Common blood-line (e.g., to half sisters)

The problem

Many congenital diseases of animals can be

due to either genetic or environmental

causes

Goiter

Arthrogryposis

Hydrocephalus

Dwarfism

Cerebral malformations

Many others

Terminology

Out breeding - breeding unrelated or less

related animals than average of the

o ulation

Phenotype physical appearance of

individual based on genetic + environmental

influences

Genotype genetic makeup of individual

Congenital (with birth): Present at birth

Genetic: Associated with genes genetic

diseases usually evident early in life, but some

manifest later

GENETIC DISEASE CONGENITAL DISEASE

Congenital non-genetic disease

BVDV encephalopathy Goiter

Congenital viral infectionLow iodine or iodine competitors


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Inbreeding - production of offspring fromparents more closely related than the average ofpopulation

Line breeding - inbreeding in which inheritanceof a specific ancestor is concentrated by father-daughter or granddaughter matings

Here in Rock Springs, Pop

and sis did a lot of line

breeding

Types of Mendelean inheritance

Autosomal* recessive

Autosomal* dominant

X-linked recessive

X-linked dominant

* Autosome = one of the numbered genes

Typical homozygous recessive

pedigree

Ancestral sire

Carrier sireCarrier dam

Affected homozygote

Some genetic diseases are expressed

LATER in life

HEMOCHROMASIS

Salers

CHAROLAIS ATAXIA

Charolais

Homozygous recessive

Onset at 1 2 years

Excessive uptake of iron

Liver iron = hepaticfailure with bonedisease

nset at - mo

Progression over 1 2

years

CNS disease

Ataxia to recumbency

Abnormal white matter


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Hemochromatosis

Ill-thrift loss of incisors death

Breed society unhelpful

Comparative disease interest

Hemochromatosis in cattle and people

Onset: 4th 5th decade 9 22 months

Inheritance: AR(HFE Cys282Tyr) Familial

Hepatic iron: 11,680 g/g 1,500 20,000 g/g

Human Bovine

rans err n sat: > >

Cause of death: Cirrhosis Hepatic fibrosis

M: F ratio: 7:1 Predominantly F

Joint lesions: Chondrocalcinosis No

Bone lesions: No Yes

Vet Pathol 38: 372 389, 2001

Homozygous recessive disease

N C

N NN NC

C NC CC

When carrier bred to carrier, chance that offspring will

have disease

When carrier bred to a non-carrier, no affected offspring. But

50% of offspring will be carriers In the herd, it may seem to skip generations

Used to be tested by sire-daughter or sire-carrier mating if 32

and 16 normal offspring,


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Types of chromosomal disorders

Abnormal chromosome number - aneuploidy

Extra chromosome trisomy

Loss of one chromosome monosomy

Congenital malformations in livestock

and horses Breed societies vary in record-keeping

Some have good genetic disease records available to

members Expect AI animals to be tested for diseases of concern

If a carrier is found, family tree should be tested

Others secretive

Difficult to investigate with many owners

Stigma

Economic effect on sale of seed stock

Difficult to trace back sires and dams

Horse industry progressive about investigating suspectgenetic disease and underwriting genetic testdevelopment

If you think you have a deleterious

genetic trait in herd or flock

1. Blood or hair DNA type to confirm parents, esp. if AI e.g., UC Davis genetics laboratory or privatelaboratory determined by breed society

.breed

3. Submit typical affected animals for necropsy tocharacterize defect

4. Work with geneticist to generate pedigree

5. Avoid and/or cull affected blood lines

6. If major problem, work with breed association todevelop genetic test to pick up carriers

Genetic tests

1.35 Kb

Probe for

normal gene

Probe for

abnormal gene

135Kb

PCR amplification using

allele-specific

oligonucleotides

NN Nn nnNN Nn nn

.

Hyperelastosis cutis in AQH Formal name: HEDRA

Hereditary equine regional dermal asthenia

AQH, Paints and Appaloosas

1978


Poco Bueno sireline Damaged dorsal trunk skin hematomas, seromas, scars

Horses 6 months 2 years old in sites of trauma and wear

Poorly healing ulcers

Hematoma and seroma formation

White hairs at sites of healed skin

Lifespan 2 4 years

Genetic test available N/N vs. N/HRD vs HRD/HRD


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HYPPHyperkalemic periodic paralysis

K+

Progeny ofImpressive

Uncontrolled muscle twitching,especially neck, shoulders, ribs,hips and flanks

Breedin forheav muscles?

Potentially fatal in H/H less in H/N

DOMINANT trait

PCR test available

~30% of positive horses no signs

Older horses less affected

Dietary control: keep K+ in dietlow

Osteopetrosis

Marble bone disease

Black and Red Angus

Small premature calves

Dead at birth

Failureto resorbbone

Undershot jaw

Malformed skull and brain

Homozygous recessive?

No genetic test -yet

Notify breed association

Dwarfism

Multiple forms

Genetic

Growth retardation

Proportionate vs. short

limbs

Recessive vs.

dominant

Each breed has its own

Syndactyly mule foot

Relatively common

Holstein

An us

Many others

Autosomal recessive

Associated with

hyperthermia

Porcine stress syndrome Selection for lean carcass/efficient growth

Single founder Pietran pig

Esp. Landrace; also Large White, Duroc

In 1970s, prevalence of 70- 90% in someEuropean countries

Major: PSE pork

Minor: death

Genetic test

Manage to reduce stress


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Overo lethal

white syndrome

Breeding paint horses: overo x overo

Aganglionisis = paralyzed LI

ea w n ays - co c

Overo x Overo horses = 50% overo foal, 25% lethalwhite and 25% non-overo foal

Overo x non-Overo = 50% chance of overo foal andno chance of lethal white foal Genetic test availablefor trait

Genetic test available

Polysaccharide storage myopathy and

tying up syndrome

AQH, Paints, Appaloosas

Similar unrelated? diseasein draught horses

Start of training

Stiff muscles

Shifting lameness

Tense abdomen

No genetic test but biopsy

Cryptorchidism

Common

Testicle(s) fail to descend

to scrotum in last month

ges a on

Infertile if internal

Inherited but

mechanism unclear

If castrated, acts as a rig

May be seat of neoplasia

Complex vertebral malformation of

Holsteins

New disease - 1999

Genetic defect identified/test developed2001

Originally Scandinavia now

About 23% bulls carriers (Sweden)

Abortions; stillbirth; perinatal death

Misshapen/fused vertebrae at cervico-thoracic junction crooked calves cleft palate stunted cardiacanomalies

Holstein Assoc USA lists of carriers

and non-carriers Scoliois and synostosisJ Vet Med Sci 64: 1107-1112

Bulldog

calves

ree s

Common in WY


Often have cleft palate and cardiac anomalies

No genetic test

Abnormal growth of cartilage

Spider lamb Suffolk breed emerged mid-1980s selection for

tall sheep?

Affected lambs:

Most born alive with skeletal deformities

Some not evident till 3 8 weeks post-natal life

orte or st orn

Limbs disproportionately long and deformed

knock-kneed

Other abnormalities: scoliosis,

kyphosis, Roman nose




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BLAD Bovine Leukocyte Adhesion Deficiency

Holsteins Recognized 1980s now largely eliminated


Inability of WBCs to stick to blood vessels and kill pathogensdue to integrin deficiency

Common sires tract back to Osborndale Ivanhoe

Carrier rate was 15% of AI bulls and 8% of cows

Affected rate was 6% of all calves born (16,000-20,000 calves)

Sickly calves death due to susceptibility to infection


Parrot mouth

Overbite

Excessive lengthof maxilla (or

short)

Inherited butmechanismunclear

Care with feed

Brain and spinal cord disorders

Multiple

Relatively common

Generall fatal

Hydrocephalus

Anencephaly

Cerebellar hypoplasia

Often concurrent ocular and spinal defects

Multiple genetic patterns

Cardiac disease in calves1. Multiple cardiac defects:

Septal defects

PDA

Anomalies of great vessels

2. Later onset cardiac disease hypertrophic

cardiomyopathy

Freemartins

NOT genetic

Blood test

Due to anastomoses of twins placental circulation

Male hormones inhibit development of female

reproductive tract + chimera

Detect by physical examination of cervix in

female calves twin to male

92% of such females are sterile 200,000 sets of

twin calves born annually in US

Also in sheep

Polydactyly and

syndactyly Poly- = too many

Syn- = fused

-dactyly = related to digits Excessive numbers of digits and fused digits

COMMON

Holstein, Angus, Hereford, Simmental amongothers

Homozygous recessive for syn-; unclear forpoly-


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Hypotrichosis - hairlessness

Multiple breeds including

Angus and Hereford Common

Usuall recessive

May be dominant or sex

linked

Can be linked to anemia

and anodontia

Other causes: BVDV

BrisketHeart failure secondary to pulmonary hypertension

Common esp. in Angus and >6,000 feet Incidence 0.5 2.0%

o ygen c n er tance

Compounded by exposure to locoweed

Heart failure and diarrhea

Test bulls for PAP

Anomalije u Goveda

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