Genetic Disorders and Biochemical Pathology — Flashcards

Huntington disease is caused by expanded trinucleotide repeats of CAG in the _____ gene on chromosome 4

The TSC2 gene encodes for _____ and is located on chromosome 16 (mutated in tuberous sclerosis)

Adrenoleukodystrophy is due to a mutation in a _____ membrane transporter, preventing very long chain fatty acids (VLCFAs) from being tagged with coenzyme A

The enzyme _____ is deficient in HunTer syndrome

Apart from Apo E4 mutation, late-onset Alzheimer's is also associated with _____ mutation on chromosome 6

Type III familial dyslipidemia is confirmed by genetic analysis that shows absence of E_____ and E4 Apo alleles

Deficiency of the enzyme _____ causes phenylketonuria (PKU)

_____ is due to mutations in the ATP7B gene on chromosome 13

In _____ syndrome, the paternal gene is imprinted and the maternal gene is mutated/deleted

_____ disease is caused by impaired copper absorption and transport due to a defect in the ATP7A gene