Genetic Disorders and Biochemical Pathology — Flashcards

The _____ allele of apolipoprotein E is associated with decreased risk for Alzheimer disease

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

The _____ allele of apolipoprotein E on chromosome 19 is associated with increased risk for Alzheimer disease

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

Hint: Prader-Willi OR Angelman

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria

_____ disrupts the peroxisomal metabolism of very-long-chain fatty acids, resulting in excessive buildup in the nervous system, adrenal gland, and testes

Type I plasminogen deficiency (hypoplasminogenemia) is due to an _____ mutation in the PLG gene

Hint: inheritance

If a uniparental disomy results in a _____ offspring, there may have been a meiosis I error

Acrodermatitis enteropathica is caused by a mutation in the intestinal zinc transporter gene,_____, found on chromosome 8q24.3

_____ syndrome is due to a trinucleotide repeat in the FMR1 gene