 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. |
 | Parameter | | Material | | Method | | Species
| | Duration
(days) | | Remarks | |
| | Cystinuria
| | EDTA blood | | sequence-
analysis | | Newfoundlands, Landseer | | 7 | | - autosomal-recessive trait
- metabolic disorder caused by a transport defect of dibasic amino acids in the kidney.
| | | | | | Chestnut
coat colour | | EDTA blood | | sequence-
analysis | | horses, all breeds | | 7 | | - autosomal-recessive trait
- no production of brown or black pigments
- chestnut coat colour
| | | | |
| | Coat colour
dog | | EDTA blood | | sequence -
analysis | | Labrador and Flatcoated Retriever | | 7 | | - autosomal-recessive trait for yellow and brown
coat colour
| | | | | | | Fucosidosis | | EDTA blood | | sequence-
analysis | | English Springer Spaniel | | 7 | | - 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 blood | | sequence -
analysis | | Golden Retriever | | 7 | | - myopathy of skeletal muscles
cardiomyopathy
- X-linked recessive trait
| | | | | | Gangliosidosis type GM1,
type GM2 | | EDTA blood | | sequence-
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 blood | | sequence-
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 blood | | sequence-
analysis | | Quarter horse | | 7 | | - 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 analysis | | Bedlington Terrier | | 7 | | - 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 pattern | | 7 | | - 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
| | | |
| | von Willebrand's disease type 1
(vWD I) | | EDTA blood | | sequence-
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 blood | | sequence-
analysis | | Scotch Terrier, Sheltie | | 7 | | - autosomal-recessive trait
- deficiency or complete lacking of von Willebrand's factor in the blood
- coagulation disorder
- severe form of vWD | | | |
|
