ANHB1101 Lecture Notes - Lecture 29: Albinism, Skin Allergy Test, Phenylalanine
Document Summary
Pku can cause phenotype associated with albinism, tyrosinase enzyme issue can also cause albinism. Mutations in other genes can determine amount of melanin in pigment = albisim phenotypes. Causes accumulation of substrate that enzyme should break down. eg. accumulation of phenyl alanine = black urine, mental retardation (causes pku or albinism) ie. principle 4 above. Effects of this/symptoms are due to - accumulation of substrate (alkaptonuria), de ciency of product (albinism), disturbance of related pathways (pku) Pku: modi ed diet at birth = xes it - environ. in uences the phenotype/gene expression. If baby has disease in utero, mother still metabolises phenylalanine. Heel prick test can check phenylalanine a few days after birth to see if disease is present. Relaxed selection (recessive rare disorder, still unlikely to see increase in disease frequency). non-human models (mice) Knockout - take gene out from genome from mouse.