01 Genetic Principles
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Somatic, Gametes
Mitosis, Meiosis
Terminology
- multiple alleles but none are dominant
Penetrance, Expressivity
- AD: not every with gene mutation gets disease
Pleiotropy
2 hit
- 2 hit only applies to tumor suppressor genes
- 2nd mutation on same chromosome causes cancer
- mutation in all cells of offspring: 2nd hit = cancer; also can pass to children
Mosaicism
- mutation during mitosis: new population of cells with different genes
- can be germline or somatic
- germline mosaicism: 1 of the gamete cells in parent develops mutation. Offspring will have mutation
- turner: some cells have 45X. Others have 46xx
McCune-Albrght
- irregular coast of Maine, like the skin borders
- child with symptoms must have mosaicism. If germline mutation, child would have died
Heterogeneity
- multiple mutations can cause disease
Backlinks