ANHB1101 Lecture Notes - Lecture 29: Albinism, Skin Allergy Test, Phenylalanine
5 Sep 2018
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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.
