Lecture 17-18 Objectives: Biochemical and Molecular Genetics of Human Disease (I and II)

1. Inborn errors of metabolism

Understand the lessons of the "inborn errors of metabolism"
    1. genes encode enzymes (among other things)
    2. biochemical and genetic individuality

2. G6PD deficiency

a. Understand the biochemical defect underlying the condition and how it relates to the phenotype observed.
    1. Understand the differences between G6PD A- and G6PD Med mutations
    2. Understand the mutational basis for G6PD deficiency and the role of cytosine methylation
    3. Understand the evolution of the disease with regard to its global distribution
    4. Understand the meaning of "Pharmacogenetics."

3. Familial Hypercholesterolemia (FHC)

a. Understand the biochemical defect underlying the condition and how it relates to the phenotype observed.
    1. Understand the cellular and clinical phenotypic differences between homozygous and heterozygous affected individuals.
    2. Understand the molecular basis for unequal crossing over as a mechanism for insertion and deletion mutants

d. Understand the phenotypic effects of different classes of mutations in the LDL receptor.

d. Understand the biochemical basis of current therapies for FHC.