Lecture, chapter 10 - From proteins to phenotypes

Today we covered most of chapter 10, from proteins to genotypes.

We talked about how mutations in genes that encode for transport proteins can be reflected in the phenotype. Our main example was hemoglobin. Mutations in the genes thay encode for any of the subunits of the protein can cause a variety of genetic disorders (hemoglobin variants, thalassemias) which most common symptom is anemia.

One of the better known cases is sickle cell anemia, caused by a mutation in the beta globins of hemoglobin, causing them to come become insoluble, resulting in the aggregation of the protein, therefore altering the shape of red blood cells and making them brittle.

Tomorrow: We'll finish chapter 10, covering the section on pharmacogenetics.

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