Day 6. Genetics. Single-gene Disorders.

Moved to genetics this morning. Metabolsism still needs revising and memorizing, but for the first reading, it's ok, I guess. I read Goljan's high yield notes yesterday and they didn't seem rocket science anymore, started to make sense. I mean, I actually knew something. Questions though seem tricky. The whole picture is still a bit messy. Needs lot of work.

• point mutations
• missense mutations
• nonsense mutations
• deletion/insertion mutations
• framshift mutations

AD - autosome dominant (mostly structural protein defect) (gained/lost). E.g. Achondroplasia.

AR - autosomal recessive (usually ezyme defects) E.g. Cystic fibrosis.

X-linked inheritance. (From mother to son, no father to son) E.g. Hemophilia A.

X-linked dominant inheritance (more women affected).

Mitochondrial inheritance - (all children of a sick woman are affected; men don't transmit) Leber Herditary Optic Neuropathy