Genetic Disorders and Biochemical Pathology — Flashcards

_____ is a tumor suppressor gene that encodes for the protein Hamartin

Friedreich ataxia is caused by a mutated _____ gene on chromosome 9

_____ syndrome is due to a mutation in the STAT3 gene

Deficiency of the enzyme _____ causes albinism

_____ is characterized by a defect in the fructokinase enzyme

_____ disease presents with deficiency of Hexosaminidase A and B

_____ is due to defect of the enzyme isovaleryl-coA dehydrogenase

Affected genes in diaphyseal aclasis are  EXT1 and EXT2 located on chromosome _____ and 11 respectively

Enzyme Replacement Therapy for _____ requires replacement of alpha-galactosidase A

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria