MCB 140 Genetics MCB140 8 27 08 1 MCB140 8 27 08 2 Dr Thomas Ried NCI NIH spectral karyotype SKY MCB140 8 27 08 3 HeLa HeLa Stay for Prof Garriga s and Prof Brem s sections Dr Thomas Ried NCI MCB140 8 27 08 4 Cancer Free at 33 but Weighing a Mastectomy Deborah Lindner 33 did intensive research as she considered having a preventive mastectomy after a DNA test The New York Times Sunday Sep 16 2007 MCB140 8 27 08 5 60 80 The New York Times Sunday Sep 16 2007 MCB140 8 27 08 6 The New York Times Sunday Sep 16 2007 MCB140 8 27 08 7 Gregor Mendel 1822 1884 and his garden in Brno Czech Republic MCB140 8 27 08 8 Nov 17 2007 MCB140 8 27 08 9 Single nucleotide polymorphism SNP pronounced snip 1 1 000 A SNP that is also a RFLP rifflip 11 7 11 25 MCB140 8 27 08 10 MCB140 8 27 08 11 Decode s claim Through a variety of sources including deCODE genetics own pioneering research in population genetics we have collected and annotated the most accurate and validated information available on genetic variations which have been associated with an average higher or lower risk of common diseases We will give you both detailed scientific background and the means to study how this knowledge applies to you Our current list of diseases includes Age related Macular Degeneration Asthma Alzheimer s Disease Atrial Fibrillation Breast Cancer Celiac Disease Colorectal Cancer Exfoliation Glaucoma XFG Crohn s Disease Multiple Sclerosis Myocardial Infarction Obesity Prostate Cancer Psoriasis Restless Legs Rheumatoid Arthritis Type 1 Diabetes and Type 2 Diabetes The disease list will be updated continuously as new discoveries are made Emphasis mine fdu My evaluation of said claim Disingenuous a definition from Merriam Webster lacking in candor also giving a false appearance of simple frankness calculating MCB140 8 27 08 12 A few terms from the detailed scientific background Haplotype Linkage disequilibrium Penetrance Expressivity Epistasis Norm of reaction Narrow sense heritability Odds ratio MCB140 8 27 08 13 Two problems Pierre de Beaumarchais The Barber of Seville 1775 The Marriage of Figaro 1784 It is not necessary to understand things in order to argue about them Most ignorance is willful Bill Watterson MCB140 8 27 08 14 Ontology vs epistemology The way things are vs the way we go about understanding how things are MCB 140 aims to educate MCB majors in not just key facts about the functioning of the genetic material in processes of heredity ontogeny and disease but also in the power and the limitations of the methods that are used to obtain those facts MCB140 8 27 08 15 MCB140 an outline Part 1 the classics Mendel Morgan Beadle Tatum the black box of heredity becomes semi transparent Part 2 prof Gian Garriga the art and craft of genetics mutations and genetic screens from a trait to mechanism putting together a pathway Part 3 prof Rachel Brem quantitative genetics complex traits MCB140 8 27 08 16 What to do so as to do well 1 Attend class 1 2 2 3 4 5 6 7 Note reliance on the fact that many lectures are on the web hence can be crammed at the last minute is a 100 guaranteed recipe for failure Further note some of the exams will be open book This means that information is less important that understanding Again postponement of studying to the last minute is a recipe for failure You have been warned Keep up with the reading Do all problem sets Attend discussion section Study hard and do well on all the quizzes Ask the GSIs questions E mail the faculty urnov berkeley edu MCB140 8 27 08 17 Observable phenomena explainable and not 1 Gravity not understood at all 2 The color of the sky understood but highly technical 4 elastic Rayleigh scattering http hyperphysics phy astr gsu edu Hbase atmos blusky html 3 Heredity understood and quite simple For millenia the curse of Yogi Berra can you observe a lot by just watching prevented the solution from being found MCB140 8 27 08 18 Children look like their parents Diana Ross the Supremes and act like their parents Nastia Liukin It s All in the Genes New York Times 5 2 04 MCB140 8 27 08 19 Heredity blending inheritance The problem was not that thinkers did not look for similarities between the generations but that they did and were understandably confused by what they saw Human families provided striking highly contradictory and apparently inconsistent evidence children sometimes looked like one parent sometimes a mixture of the two sometimes like neither and sometimes like their grandparents Cobb NRG 7 953 MCB140 8 27 08 20 Surprisingly to the modern eye no one in the seventeenth century argued that eggs and sperm represented complementary elements that made equivalent contributions to the offspring Instead the next 150 years were dominated by either ovist or spermist visions of what eventually became known as reproduction the term was coined only in 1745 Ref 7 Each view considered that only one of the two parental components provided the stuff of which new life was made with the other component being either food as the spermists saw the egg or a force that merely awoke the egg as the ovists saw the spermatozoa There were many reasons underlying this apparent scientific dead end For example in chickens the two elements did not seem to be equivalent at all there was a single enormous egg which was apparently passive whereas the spermatic animals were microscopic incredibly active and present in mind boggling numbers Ultimately however the reason that late seventeenth century thinkers did not realize what to us seems blindingly obvious that both eggs and sperm make equal contributions to the future offspring was that there was no compelling evidence to make them appreciate this Victor Hartmann the drawing that inspired Mussorgsky to write the Ballet of the Unhatched Chicks from Pictures at an Exhibition The power of the scientific method Cobb NRG 7 953 MCB140 8 27 08 21 1677 Leeuwenhoek s drawing of sperm Jan Vermeer The Astronomer 1688 MCB140 8 27 08 22 In a rare experimental study of resemblance Leeuwenhoek provided yet another example of the way characters appeared in each generation and added to the prevailing perplexity Using what could have been a tractable model rabbits Leeuwenhoek was surprised to find that a grey male wild rabbit could give rise to only grey offspring But Leeuwenhoek argued that spermatozoa were the sole source of the future animal so his strange finding from rabbits became a proof enabling me to maintain that the foetus proceeds only from the male
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