BIO 30_Lec 6_Gene Functions A

1902, first evidence of specific relationship between gene and enzyme, studied alkaptonuria

• Archilbald Garrd
• George Beadle and Edward Tatum
• None of the above

1942, one gene-one enzyme hypothesis

• Archilbald Garrd
• George Beadle and Edward Tatum
• None of the above

Alkaptonuria

• HA Oxidase
• Urine turns black upon exposire to air
• Glucoronyl transferase
• Presence of bile in various tissues

Cretinism

• Iodotyrosine deiodinase
• Physical deformity and learning disabilities
• Gal 1 p uridyl transferase
• Liver enlargement, galactose in the blood

Galactosemia

• Gal 1 p uridyl transferase
• Liver enlargement, galactose in the blood
• Iodotyrosine deiodinase
• Physical deformity and learning disabilities

Huntington’s disease

• Glutamic acid decarboxylase
• Progressive mental retardation
• Glucoronyl transferase
• Presence of bile in various tissues

Jaundice

• Glutamic acid decarboxylase
• Progressive mental retardation
• Glucoronyl transferase
• Presence of bile in various tissues

Lesch-Nyhan syndrome

• Hypoxanthine guanine phosphorybosyl transferase
• Mental retardation, self mutilation
• Phenylalanine hydroxylase
• Mental retardation, excretion of phenylalanine

Phenylketonuria

• Hypoxanthine guanine phosphorybosyl transferase
• Mental retardation, self mutilation
• Phenylalanine hydroxylase
• Mental retardation, excretion of phenylalanine

Tay-sachs disease

• B-D-N acetyl hexosaminidase A
• Mental and motor retardation
• tyrosinase
• No melanin pigments in the hair, skin eyes