Topic 21 Flashcards
Congenital
Disease and defect present from birth
Aim of diagnosis
To diagnose sick individuals and carriers
Clinical methods
Phenotype screening; Clinical screening
Phenotype screening
identification of molecules and targets resulting in a desired phenotype
Clinical Screening
X-ray, endoscopy, liver function, kidney clearance
Examples of diseases
Progressive Retinal Atropy (PRA) - cataract in dog; Malignant hyperthermia, stress myopathy - Halothane test at 7 weeks; Mannosidosis
Mannosidosis
Deficiency of mannosidose lysosomal storage disease
mimic disorders
?
mimic/overlap something but have characteristics that differentiate it
phenocopies
A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype.