Important bovine genetic disease (소의 유전병)

B3 Most important bovine genetic diseases

Genetic mutations as breed traits:

Muscle hypertrophy

Genetic dysplasia/ achondroplasia

​Immunodeficiency

• BLAD (bovine lymphocyte adhesion deficiency) ulcers , loss of teeth , chronic pneumonia and diarrhoea —> early death
• Chediak-Higashi syndrome- autosomal recessive

Blood circulation, hemostasis

• Haemophilia B (factor IX deficiency)
• Hyperbilirubinaemia
• Proto- porphyria (congenital, rare, AR)
• Platelet bleeding disorder

​Metabolic diseases (lysosomal storage diseases)

• Lipofuscinosis, Gangliosidosis, Mucopolysaccharidosis I
• Glukogenosis V: pompe disease, progressive muscular weakness leading to collapse after weaning
• Mannosidosis α & β: inellectual disability, distinctive facial features, skeletal abnormalities
• Citrullinaemia
• DUMPS (deficiency of uridine monophosphate synthase) embryonic death
• Ahorn-syrup-urine disease
• DUMP: defeicincy uridine monophosphate synthase

Muscles

• Muscular hypertrophy (double muscling) – Belgian blue
• Hypo- & dysmyelinisations (lameness of calves)
• Spinal muscular atrophy (SMA)
• Weaver syndrome posterior paraplegia
• Lethal spastic paresis
• Chondrodysplasia & achondroplasia (Dexter cattle, AD)
• Dwarfism (proportional, STH-receptor mutation) , seen on Angus

​Bones:

• Complex vertebral malformation
• Syndactylia - Fusion of digits
• Polymelia- many extremities
• Arachnomelia- spider legs
• Arthrogiposis
• Apodia (lack of homeobox proteins, homeosis)
• ​Atresia/agenesia: Atresia coli, Kidney dysplasia, Nephritis

Intersexes:

• XY females
• Tfm (testicular feminization) syndrome - Lack of androgenic receptors
• Testicular, ovarian & uterine hypoplasia

Endocrine: Goiter in Afrikaner cattle

Skin & coat

• Albinism
• Dermatospraxis (cutaneous asthenia AR)
• Epitheliogenesis imperfecta
• Hypotrichosis
• Oligodontia
• Parakeratosis

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​Holstein: DUMPS, Factor IX haemophilia, complex vertebral malformation, bovine lymphocytes adhesion deficiency BLAD

Brown Swiss: Albinism, weaver syndrome

Dexter: Dwarfism

African cattle: goiter

Angus: dwarfism

Simmental: platelet bleeding disorder

Short horn: paraceratosis/ bovine hereditary zinc defecincy