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The Human Genome

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. Karyotyping. Pedigree for albinism.

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The Human Genome

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  1. The Human Genome

  2. 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

  3. Karyotyping

  4. Pedigreefor albinism

  5. 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

  6. 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

  7. A DNAmicroarray

  8. 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

  9. Meiotic nondisjunction • Sister chromatids or homologous chromosomes fail to move apart in meiosis • Cause of • Trisomy • Monosomy

  10. Meiotic nondisjunction

  11. Structural abnormalities in chromosomes • Translocations • Deletions • Fragile sites

  12. Reciprocal translocation

  13. Fragile Xsyndrome

  14. Genetic diseases caused by single-gene mutations • Autosomal recessive disorder • PKU • Sickle cell anemia • Autosomal dominant disorder • Huntington’s disease • X-linked recessive • Hemophilia

  15. Sickle cellanemia

  16. Age of onset of Huntington’s disease

  17. Gene therapy • Normal allele is cloned • DNA introduced into certain body cells • One technical challenge is finding appropriate vector

  18. Prenatal gene testing and counseling • Amniocentesis • Chorionic villus sampling (CVS) • Preimplantation genetic diagnosis (PGD)

  19. Amniocentesis

  20. Chorionic villus sampling (CVS)

  21. 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

  22. 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

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