Topic 21 Flashcards

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1
Q

Congenital

A

Disease and defect present from birth

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2
Q

Aim of diagnosis

A

To diagnose sick individuals and carriers

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3
Q

Clinical methods

A

Phenotype screening; Clinical screening

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4
Q

Phenotype screening

A

identification of molecules and targets resulting in a desired phenotype

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5
Q

Clinical Screening

A

X-ray, endoscopy, liver function, kidney clearance

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6
Q

Examples of diseases

A

Progressive Retinal Atropy (PRA) - cataract in dog; Malignant hyperthermia, stress myopathy - Halothane test at 7 weeks; Mannosidosis

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7
Q

Mannosidosis

A

Deficiency of mannosidose lysosomal storage disease

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8
Q

mimic disorders

A

?

mimic/overlap something but have characteristics that differentiate it

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9
Q

phenocopies

A

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.

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