01 Genetic Principles
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Somatic, Gametes
![](https://photos.thisispiggy.com/file/wikiFiles/3CFA25F4-C60E-4790-85B8-093413F62593.jpg)
Mitosis, Meiosis
![](https://photos.thisispiggy.com/file/wikiFiles/156B9BB8-2476-4725-9688-76B39D2135A9.jpg)
![](https://photos.thisispiggy.com/file/wikiFiles/04485382-EF55-46F7-AA33-04337B9259C8.jpg)
Terminology
![](https://photos.thisispiggy.com/file/wikiFiles/A6205821-81CD-4651-A0B2-F3BF966082E9.jpg)
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- multiple alleles but none are dominant
![](https://photos.thisispiggy.com/file/wikiFiles/198ABBD5-25B8-4EEB-B562-7064DE53F603.jpg)
Penetrance, Expressivity
![](https://photos.thisispiggy.com/file/wikiFiles/DD4B7CDA-4EB5-463F-8063-1159F1018DB3.jpg)
- AD: not every with gene mutation gets disease
![](https://photos.thisispiggy.com/file/wikiFiles/C694057C-4BC8-4564-B134-5745278E93EC.jpg)
![](https://photos.thisispiggy.com/file/wikiFiles/ABA07988-1A19-4A6E-9899-6FC08E9A2CA5.jpg)
Pleiotropy
![](https://photos.thisispiggy.com/file/wikiFiles/AA8D9128-BC14-4189-BAB0-98CC27D1315C.jpg)
2 hit
![](https://photos.thisispiggy.com/file/wikiFiles/145FE488-C4AC-469C-84B6-502C41C00987.jpg)
- 2 hit only applies to tumor suppressor genes
![](https://photos.thisispiggy.com/file/wikiFiles/9BBCBD55-7732-4FCE-B255-CB9AD70AFCC8.jpg)
- 2nd mutation on same chromosome causes cancer
![](https://photos.thisispiggy.com/file/wikiFiles/9A9027D8-03E0-4130-BD2A-542C56898650.jpg)
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![](https://photos.thisispiggy.com/file/wikiFiles/6EB5B74A-FCC3-41C1-8CF8-DBF38EE12CE4.jpg)
- mutation in all cells of offspring: 2nd hit = cancer; also can pass to children
![](https://photos.thisispiggy.com/file/wikiFiles/8B1BAC9C-1692-4EFE-B8D2-9EE63BF1EF11.jpg)
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Mosaicism
![](https://photos.thisispiggy.com/file/wikiFiles/4D3BA906-A340-4839-8E70-9293E8EB8302.jpg)
- mutation during mitosis: new population of cells with different genes
![](https://photos.thisispiggy.com/file/wikiFiles/F536FDB0-C4B8-4038-BE82-A8C39669AB02.jpg)
- can be germline or somatic
![](https://photos.thisispiggy.com/file/wikiFiles/F70C7359-D398-4EF1-B273-90B712EF61F2.jpg)
- germline mosaicism: 1 of the gamete cells in parent develops mutation. Offspring will have mutation
![](https://photos.thisispiggy.com/file/wikiFiles/AA234BE5-D42C-491A-BF3A-EC9DCCB1787F.jpg)
- turner: some cells have 45X. Others have 46xx
McCune-Albrght
![](https://photos.thisispiggy.com/file/wikiFiles/869B963E-FBF7-4257-B796-2EA45304467C.jpg)
![](https://photos.thisispiggy.com/file/wikiFiles/2A58D4FC-7FBF-467E-A625-46BDFE4B8529.jpg)
- irregular coast of Maine, like the skin borders
![](https://photos.thisispiggy.com/file/wikiFiles/87A01CA8-F1BA-4EB1-BB75-4E053E490158.jpg)
![](https://photos.thisispiggy.com/file/wikiFiles/907954AD-6ECB-4192-AA14-690EB1F17FB6.jpg)
- child with symptoms must have mosaicism. If germline mutation, child would have died
Heterogeneity
![](https://photos.thisispiggy.com/file/wikiFiles/5663DD33-3948-4109-9F5E-E137516DD068.jpg)
- multiple mutations can cause disease
![](https://photos.thisispiggy.com/file/wikiFiles/09BA56DA-120C-477F-86D9-82438D7270AB.jpg)
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