Genetic Disorders and Biochemical Pathology — Flashcards

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

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

Hint: inheritance

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

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria

Crigler-Najjar syndrome type _____ is less severe and responds to phenobarbital, which increases liver enzyme synthesis

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

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

Cystic fibrosis most commonly occurs due to an _____ deletion of Phe508

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

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

Hint: Prader-Willi OR Angelman