Inherited diseases

Inheritance

Autosomal-recessive, i.e. genetic carriers are not affected but pass the defective gene on to their offspring with a 50%  probability. If two carriers are bred, affected offspring is to be expected with a 25% probability (silent carriers 50%, healthy individuals 25%).
Recessive inherited disorders can spread within a population with no clinical symptoms!
X-linked-recessive, i.e. the defective gene is located on a sex chromosome.
Females (XX) act as silent carriers, males (XY) as affected animals.
Autosomal-dominant with variable penetrance, i.e. heterozygotes are affected, however with variable characteristics.
Autosomal-dominant, i.e. heterozygotes show symptoms of the disease, too.
The symptoms correlate with those of affected (homozygous) animals.

ParameterMaterialMethodSpecies 

Duration
(days) 
Remarks
BLAD
(bovine leucocyte
adhesion deficiency)
EDTA bloodsequence-
analysis   
Holstein-Frisians  7

- autosomal-recessive trait-
  
- immune deficiency disorder characterized by the lack of CD18
  
- severe infections and death before puberty
 

CLAD
(canine leucocyte adhesion deficiency) 
  
EDTA
blood
sequence-
analysis
Irish Setter 7

- autosomal-recessive trait
  
- immune deficiency disorder characterized by the lack of CD18
 
- severe infections like omphalitis, gingivitis, tonsillitis and dermatitis as well as arthritis;

 
Cystinuria
 
EDTA bloodsequence-
analysis 
Newfoundlands, Landseer7- autosomal-recessive trait
 
- metabolic disorder caused by a transport defect of dibasic amino acids in the kidney.
 
Chestnut
coat colour  
EDTA bloodsequence-
analysis 
horses, all breeds7- autosomal-recessive trait
 
- no production of brown or black pigments
 
- chestnut coat colour
 
 
Coat colour      
dog
EDTA blood  sequence -
analysis
Labrador and Flatcoated Retriever7- autosomal-recessive trait for yellow and brown
coat colour
 
 
FucosidosisEDTA bloodsequence-
analysis
English Springer Spaniel7- autosomal-recessive trait
 
- storage disease caused by lack of the enzyme Fucosidase
 
- uncoordinated movements, behavioural abnormalities, deafness and impairment moving
  
 
 
GRMD
(Golden Retriever muscular dystrophy)      
EDTA bloodsequence -
analysis
Golden Retriever7- myopathy of skeletal muscles
cardiomyopathy
 
- X-linked  recessive trait
 
Gangliosidosis type GM1,
type GM2
EDTA bloodsequence-
analysis  
Siamese,
Korat cat
7- autosomal-recessive trait
 
- lysosomal storage diseases
 
- head tremor, uncoordinated movement of the extremities, paralysis
 
- Siamese only GM1, Korat cat both types
 
Globoid cell leucodystrophy
(Krabbe Disease)   
EDTA bloodsequence-
analysis 
West Highland White Terrier,
Cairn-Terrier 
7- autosomal-recessive trait

- non-treatable lipid storage disease with progressive degeneration of the white brain substance 
- muscle atrophy and neurological degeneration.
HYPP
(hyperkalemic periodic paralysis)
EDTA bloodsequence-
analysis 
Quarter horse7- autosomal-dominant trait

- muscle weakness and tremor occuring at rest, with variable intensity, paralytic collaps of the animals possible 
- affected are descendants of the sire „Impressiv“
 
Copper storage disease    EDTA
blood
fragment-length analysisBedlington Terrier7- autosomal-recessive trait
 
- copper accumulation in the liver

 - liver cirrhosis
 
LWO
(lethal white overo defect)   
EDTA
blood
sequence-
analysis
American Paint Horses with overo frame pattern7- autosomal-recessive trait
 
- white coat colour, death within 24-48 hours after birth due to intestinal agangliosis
 
MHS
(malignant hyperther-mia)  
EDTA
blood
sequence-
analysis 
various breeds of pigs 7- autosomal-recessive trait
 
- disorder of the muscles, hypermetabolism and elevated body temperature
 
Myotonia congenita   EDTA
blood
sequence-
analysis 
Miniature-Schnauzer 7- autosomal-recessive trait
 
- defect of chloride channels of skeletal muscles

- skeletal muscle hypertrophy, stiffness when dogs rise after resting, stiff, stited gait, unusual respiratory sounds
 
Night blindness(CSNB=congenital stationary night blindness)EDTA bloodfragment-length analysisBriard7autosomal-recessive trait,
visual impairment  
 
Phosphofrukto-kinase deficiency (PFK) EDTA bloodsequence-
analysis  
Engl. Springer Spaniel 7

- autosomal-recessive trait
 
- inhibited energy metabolism due to lack of enzyme phosphofruktokinase 
 
- destruction of red blood cells, dark urine, amaemia, ikterus, intolerance to exercise and muscle cramps 
 

PRA
(progressive retinal atrophy)   
EDTA
blood
sequence-
analysis  
Irish Setter, Welsh Corgi, Sloughi 7

- (progressive retinal atrophy)
 
- visual impairment leading to complete blindness, clinical signs develop at 4-6 months of age (early form) 
 

PRA
(progressive retinal atrophy)
 
EDTA
blood
sequence-
analysis 
Bull Mastiff, English Mastiff 7- autosomal-dominant trait
 
loss of vision relatively late in life (late form of PRA) 
 
Pyruvate kinase deficiency (PK)   EDTA blood sequence-
analysis 
Basenji,
West Highland White Terrier 
7- autosomal-recessive trait
 
- glycolysis of erythrocytes is impaired
 
- severe, chronic, regenerative hemolytic anaemia,
reticulocytosis
 
SCID
(severe combined immuno-deficiency)     
EDTA
blood
fragment-length analysisArabian horse7

- autosomal-recessive trait
 
- lack of B- and T-lymphoczytes
 
- death of foals at approx. 5 months of age due to infections caused by opportunistic microorganisms 
 

von Willebrand's disease type 1
(vWD I)  
EDTA bloodsequence-
analysis 
Doberman, Manchester Terrier,
Poodle
7- autosomal-dominant trait with variable penetrance
 
- deficiency or lack  of von Willebrand's factor in blood
 
- symptoms range from prolonged bleeding tendency to severe bleeding

- mild form of vWD
von Willebrand's disease type 3 (vWD III) ) EDTA bloodsequence-
analysis 
Scotch Terrier, Sheltie7- autosomal-recessive trait
 
- deficiency or complete lacking of von Willebrand's factor in the blood
 
- coagulation disorder
 
- severe form of vWD
X-SCID
(X-chromosomal severe combined immuno- deficiency)  
EDTA
blood
sequence-
analysis 
Basset,
Welsh Corgi
7-chromosomal-rezessive trait
 
- severe defect of cellular and humoral immunity
 
-fatal
Free Martinism  EDTA
blood
PCRcattle1-5

Intersexual  cattle: externally female calves, which possess cells with female (XX) as well as with male (XY) karyotype, infertility 

 

 

 


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