پاورپوینت Molecular Genetics and Otolaryngology

پاورپوینت Molecular Genetics and Otolaryngology

فرمت فایل دانلودی: .zip
فرمت فایل اصلی: PowerPoint (pptx) (قابل ویرایش و آماده پرینت)
تعداد صفحات: 38
حجم فایل: 234202
قیمت: 42000 تومان

بخشی از متن:

پاورپوینت Molecular Genetics and Otolaryngology (pptx) 38 اسلاید

دسته بندی : پاورپوینت

نوع فایل : PowerPoint (.pptx) ( قابل ویرایش و آماده پرینت )

تعداد اسلاید: 38 اسلاید

قسمتی از متن PowerPoint (.pptx) :

Molecular Genetics and OtolaryngologyMichael E. Prater MDShawn D. Newlands MDIntroductionChromosomal analysisCytogeneticsMolecular biology and geneticsBiochemical geneticsClinical geneticsPopulation geneticsGenetic epidemiologyDevelopmental geneticsImmunogeneticsGenetic counselingFetal geneticsHistoryGregor Mendel 1865“Mendel’s Laws” of autosomal inheritenceWork “lost” until early 1900’sCharles Darwin 1859“The Origin of Species” Jean Baptiste LemarckHistory continuedFrancis Galton (Charles Darwin’s cousin)The “father” of modern geneticsrediscovered Mendel’s laws“nature versus nurture”“inborn errors of metabolism” responsible for biological abnormalitiesHistory ContinuedJames Watson and Francis CrickDNA discovered in 1940’sDetermined double helix in 1953Nobel Prize in 1962Human Genome ProjectBegun in 1990Goal is to identify every human gene by 20059% completed as of 1999Classification of DisordersSingle Gene DefectsUsually single critical error in the genetic codeUsually phenotypically obviousExamples: NF I and II osteogenesis imperfecta cystic fibrosisClassification continuedChromosomal disordersnot due to single defectusually due to deficiency in number of genes within chromosomeclassic example is Down Syndrome (Trisomy 21)other examples: Trimsomies 13 18 Klinefelter’s Syndrome Turner’s Syndromephenotypically obvioususually incompatible with lifeClassification continuedMultifactorial inheritance multiple single code defectsusually form a patternclassic examples: cleft lip/palate neural tube defectspossible example: head and neck cancer?Chromosomal Structure23 pairs of chromosomesapproximately 7 million base pairs100000 genesDNA:five carbon sugar (deoxyribose; ribose in RNA)nitrogen base (purines pyrimidines)3’5’ phosphate linkagehydrogen bonded double strand