صفحه محصول - پاورپوینت Molecular Genetics and Otolaryngology

پاورپوینت Molecular Genetics and Otolaryngology (pptx) 38 اسلاید

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Molecular Genetics and Otolaryngology Michael E. Prater, MD Shawn D. Newlands, MD Introduction Chromosomal analysis Cytogenetics Molecular biology and genetics Biochemical genetics Clinical genetics Population genetics Genetic epidemiology Developmental genetics Immunogenetics Genetic counseling Fetal genetics History Gregor Mendel, 1865 “Mendel’s Laws” of autosomal inheritence Work “lost” until early 1900’s Charles Darwin, 1859 “The Origin of Species” Jean Baptiste Lemarck History, continued Francis Galton (Charles Darwin’s cousin) The “father” of modern genetics rediscovered Mendel’s laws “nature versus nurture” “inborn errors of metabolism” responsible for biological abnormalities History, Continued James Watson and Francis Crick DNA discovered in 1940’s Determined double helix in 1953 Nobel Prize in 1962 Human Genome Project Begun in 1990 Goal is to identify every human gene by 2005 9% completed as of 1999 Classification of Disorders Single Gene Defects Usually single critical error in the genetic code Usually phenotypically obvious Examples: NF I and II, osteogenesis imperfecta, cystic fibrosis Classification, continued Chromosomal disorders not due to single defect usually due to deficiency in number of genes within chromosome classic example is Down Syndrome (Trisomy 21) other examples: Trimsomies 13, 18, Klinefelter’s Syndrome, Turner’s Syndrome phenotypically obvious usually incompatible with life Classification, continued Multifactorial inheritance multiple single code defects usually form a pattern classic examples: cleft lip/palate, neural tube defects possible example: head and neck cancer? Chromosomal Structure 23 pairs of chromosomes approximately 7 million base pairs 100,000 genes DNA: five carbon sugar (deoxyribose; ribose in RNA) nitrogen base (purines, pyrimidines) 3’5’ phosphate linkage hydrogen bonded double strand