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Chapter 8 Reading

Chapter 8 Reading. Cell Reproduction: Mitosis and Meiosis. 8.12 , 8.13, 8.14, 8.15, 8.17, 8.19, 8.20, 8.21. Important Concepts. Meiosis Assisted reproductive technology Errors in meiosis ( nondisjunction ) and aneuploid syndromes. Homologous Chromosomes. P = Paternal M = Maternal. P.

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Chapter 8 Reading

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  1. Chapter 8 Reading Cell Reproduction: Mitosis and Meiosis 8.12, 8.13, 8.14, 8.15, 8.17, 8.19, 8.20, 8.21 Important Concepts Meiosis Assisted reproductive technology Errors in meiosis (nondisjunction) and aneuploid syndromes

  2. Homologous Chromosomes P = Paternal M = Maternal P M

  3. Human Meiosis (Males) 23 Chromosomes 46 Chromosomes 23 Chromosomes

  4. Human Meiosis (Females) 23 Chromosomes 46 Chromosomes 23 Chromosomes

  5. Male Meiosis

  6. Female Meiosis Male G1/S/G2

  7. Female Meiosis Male G1/S/G2 Meiosis stops

  8. Female Meiosis Male G1/S/G2 X X Egg

  9. Fertilization 23 Chromosomes 46 Chromosomes 23 Chromosomes Zygote

  10. Egg Cell and Sperm Cells

  11. Early Embryonic Development (~ 7 days)

  12. Sperm cells In Vitro Fertilization (IVF) Embryos (4-cell stage)

  13. Down Syndrome Karyotype Trisomy 21

  14. Chapter 9 Reading Patterns of Inheritance (Transmission Genetics) 9.1, 9.2, 9.3, 9.4, 9.5, 9.6, 9.7, 9.8, 9.9, 9.10, 9.12, 9.13, 9.16, 9.20, 9.21, 9.22 Important Concepts History of genetics Simple probability rules Genes and alleles Genotype/Phenotype Segregation and independent assortment Meiosis and Mendelian genetics Human genetics Pedigrees Multiple alleles X-linked genetics Genetic testing

  15. A Brief History of Genetics Molecular Genetics Population Genetics Cytogenetics Transmission Genetics 1860s 1900 1910 1950s 2000s

  16. Gregor Mendel (1822-1884)

  17. Gene for hair color Gene for hair color With two possible alleles: A and a

  18. P M Homologous Chromosomes P = Paternal M = Maternal

  19. Homozygous Dominant Genotype A A P M Homologous Chromosomes P = Paternal M = Maternal

  20. Homozygous Recessive Genotype a a P M Homologous Chromosomes P = Paternal M = Maternal

  21. Heterozygous Genotype A a P M Homologous Chromosomes P = Paternal M = Maternal

  22. Heterozygous Genotype a A P M Homologous Chromosomes P = Paternal M = Maternal

  23. Cystic Fibrosis Most common recessive inherited disorder in Caucasians in U.S. 1/2500 people have CF 1/25 are asympotomatic “carriers” of CF mutation Defective Chloride ion transport protein Congested lungs Highly susceptible to lung infections

  24. Huntington’s Disease

  25. EPO Sensitive Allele And Olympic Glory EeroMäntyranta Seven Olympic medals

  26. Recessive Inheritance

  27. Dominant Inheritance

  28. Red Blood Cells

  29. Agglutination Test for ABO Blood Type

  30. Red Blood Cells Hemoglobin

  31. X Chromosome 155 Million base pairs (bp) 1606 Genes X-linked Recessive Traits Muscular Dystrophy (Duchene) Adrenoleukodystrophy Hemophilia A Hemophilia B Green Color Blindness Red Color Blindness

  32. X Chromosome Female Male

  33. Pedigree of European Royal family

  34. RrYy RrYy x

  35. Genetic Testing Disease-related Diagnosis Current disease Risk of future disease Carrier status Pharmacogenomics Efficacy of therapeutic drug treatment Tissue Typing Transplantation

  36. • For only $985, we scan over one million variants in your genome • Calculate genetic risk for 18 diseases based on the current literature • Find out where your ancestors came from and compare your genome with others 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.

  37. Genetic Testing Post-natal (blood, cheek cells) Prenatal (CVS, amniocentesis, PGD)

  38. Pre-implantation Genetic Diagnosis (PGD) 8-cell Embryo

  39. Protein Functions Enzymes Membrane transport Intercellular transport (hemoglobin) Hormones (insulin) Receptors Antibodies (immune system) Toxins (anthrax toxin) Fibers Motive force Bioluminescence/Fluorescence

  40. Chapters 10 Reading Molecular Biology of the Gene (Molecular Genetics) 10.1, 10.2, 10.3, 10.6, 10.7, 10.8, 10.16 Important Concepts Structure of DNA, RNA and Proteins (review) Gene Expression Transcription/Translation The genetic code Mutations, mutagenesis and mutagens Molecular genetic basis of alleles (e.g. sickle cell anemia)

  41. ATG GTG CAC TTG ACC CCC GAG GAG 5’ 3’ met - val - his - leu - thr - pro - glu - glu (C) (N) ATG GTG CAC TTG ACC CCC GTG GAG 3’ 5’ met - val - his - leu - thr - pro - val - glu (N) (C) Molecular Basis of Sickle-Cell Allele HbA Hb-A HbS Hb-S

  42. Normal and Mutant ß-globin Proteins Normal Hb Protein Hb-A Mutant Hb Proteins

  43. Xerodermapigmentosum

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