Biology Seventh Edition Solomon Berg Martin Chapter 15

Biology, Seventh Edition CHAPTER 15 The Human Genome • Studying Human Genetics • Karyotyping – Studies the number and kind of chromosomes in the nucleus – Enables researchers to identify chromosome abnormalities • Pedigree – Family tree – Transmission of genetic traits over generations Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome Karyotyping Copyright © 2005 Brooks/Cole —

Biology, Seventh Edition CHAPTER 15 The Human Genome Pedigree for albinism Copyright © 2005

Biology, Seventh Edition CHAPTER 15 The Human Genome • Human genetics • Human genome and Human Genome Project • Bioinformatics – Storage, retrieval, and comparison of DNA • Pharmacogenetics – Drugs customized to individual • Proteomics – Study of proteins encoded by human genome Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome Copyright © 2005 Brooks/Cole — Thomson

Biology, Seventh Edition CHAPTER 15 The Human Genome • Mouse models to study disease • Ethical issues in using humans as test subjects • Animal model is used instead – Example is cystic fibrosis, a genetic disease – Gene targeting used to produce mice homozygous or heterozygous for cystic fibrosis Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome A DNA microarray Copyright © 2005

Biology, Seventh Edition CHAPTER 15 The Human Genome • Abnormalities in chromosome number and structure • Aneuploidy: missing or extra copies of certain chromosomes – Trisomy: trisomy 21 common form of Down syndrome – Monosomy: Turner syndrome Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome • Meiotic nondisjunction • Sister chromatids or homologous chromosomes fail to move apart in meiosis • Cause of – Trisomy – Monosomy Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition Meiotic nondisjunction Copyright © 2005 Brooks/Cole — Thomson Learning CHAPTER 15

Biology, Seventh Edition CHAPTER 15 The Human Genome • Structural abnormalities in chromosomes •

Biology, Seventh Edition CHAPTER 15 The Human Genome Reciprocal translocation Copyright © 2005 Brooks/Cole

Biology, Seventh Edition CHAPTER 15 The Human Genome Fragile X syndrome Copyright © 2005

Biology, Seventh Edition CHAPTER 15 The Human Genome • Genetic diseases caused by single-gene mutations • Autosomal recessive disorder – PKU – Sickle cell anemia • Autosomal dominant disorder – Huntington’s disease • X-linked recessive – Hemophilia Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome Sickle cell anemia Copyright © 2005

Biology, Seventh Edition CHAPTER 15 The Human Genome Age of onset of Huntington’s disease

Biology, Seventh Edition CHAPTER 15 The Human Genome • Gene therapy • Normal allele is cloned • DNA introduced into certain body cells • One technical challenge is finding appropriate vector Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome • Prenatal gene testing and counseling • Amniocentesis • Chorionic villus sampling (CVS) • Preimplantation genetic diagnosis (PGD) Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome Amniocentesis Copyright © 2005 Brooks/Cole —

Biology, Seventh Edition CHAPTER 15 The Human Genome Chorionic villus sampling (CVS) Copyright ©

Biology, Seventh Edition CHAPTER 15 The Human Genome • Genetic screening • Identifies individuals who might carry a serious genetic disease • Newborn screening important in preventive medicine • Genetic counseling • Medical and genetic information given when there is a risk of abnormality Copyright © 2005 Brooks/Cole — Thomson Learning

Biology, Seventh Edition CHAPTER 15 The Human Genome • Genetic discrimination • Discrimination because of differences from the “normal” genome • Controversy regarding whether information should be given to insurance companies and employers • Issues of genetic privacy will become increasingly important Copyright © 2005 Brooks/Cole — Thomson Learning