human populaon gene+cs · 2020. 1. 3. · overview • hardy-weinberg equilibrium • inbreeding...

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Human Popula+on Gene+cs

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Page 1: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

HumanPopula+onGene+cs

Page 2: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Overview•  Hardy-Weinbergequilibrium•  Inbreeding&RGD•  Humanorigins

Page 3: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Hardy-Weinberg

Page 4: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Hardy-Weinberg

GrahamCoop,UCDavis

Page 5: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Randomgene+cdriD •  Foundereffects– AshkenaziJews

Condi&on CarrierFrequency

Tay-Sachs 1/30

Canavandisease 1/40

Cys+cfibrosis 1/29

Familialdysautonomia 1/32

Bloomsyndrome 1/100

FanconianemiagroupC 1/89

Gaucherdisease 1/15

MucolipidosistypeIV 1/127

Niemann-Pickdisease 1/90

Glycogenstorage1a 1/71

Maplesyrupurinedisease 1/81

Page 6: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Randomgene+cdriD •  Foundereffects– AshkenaziJews– Amish– Hu]erite– Afrikanerpopula+on

•  Morphometrictraits– Cranialevolu+on

Page 7: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Cavalli-Sforza2005Rosenbergetal.2002

Popula+ondifferen+a+on

Page 8: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Popula+ondifferen+a+on

JNovembreetal.Nature000,1-4(2008)doi:10.1038/nature07331

Page 9: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Inbreeding

CeballosandAlvarez2013

Page 10: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Humanorigins

Page 11: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Humanorigins

Ramachandran S et al. 2005

Page 12: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Humanorigins

Greenetal.2010

Page 13: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Humanorigins

Page 14: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal

Humanorigins

Page 15: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal
Page 16: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal
Page 17: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal
Page 18: Human Populaon Gene+cs · 2020. 1. 3. · Overview • Hardy-Weinberg equilibrium • Inbreeding & RGD • Human origins Hardy ... 0.02 0.01 -0.01 -0.02 —0.03 UK Frances Spain Portugal