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  • 1. ADVANCED HUMAN GENETICS AND DEVELOPMENT Submitted by: Lisa Belluzzi, ANHS, 6/97 Course Title: Advanced Human Genetics and Development Grades: 10-12 Units: 5 Course Length: 1 Semester Subject Area: Life Science, College Prep* Pre-requisite: Biology Course Description: This course explores the human reproductive systems, human genetics, genetic disorders, genetic testing, fetal development, fetal testing, sexually transmitted diseases, and emphasizes techniques and ethical issues related to biotechnology. Advanced Human Genetics and Development will include the following topics: the genetic basis of heredity, the chromosomal and single gene basis of human traits, the human genome project and modern technology of gene sequencing, human genetic abnormalities and diseases, the ethics of genetic testing, the stages of embryonic and fetal development, the effects of alcohol and drugs, and fetal testing and genetic screening during pregnancy. This course will enable students to develop an understanding of the relevant issues that they, as future potential parents, may need to make informed decisions in preparing for and during the course of a pregnancy. This course will emphasize the important role and responsibility of both parents prior to and during a pregnancy to ensure the optimal health and well-being of a child. Students will have the opportunity to develop their reading, writing, laboratory and oral communication skills as they prepare group and individual presentations. Students will research and present information and supported opinions on various current issues in reproductive health and technology, such as in vitro fertilization (IVF), pre-implantation genetic testing, cloning, multiple pregnancies, overpopulation, DNA fingerprinting, and gene therapy. The assessment process will include peer and instructor evaluations, as well as objective testing. Proposed Textbook: Davis, Rowland H. and Weller, Stephen G. The Gist of Genetics. Jones and Bartlett Publishers, Sudbury, Massachusetts, 1996. Course Objectives: Standard 1: Human Reproductive Systems Key concepts: Structures and functions of the human male and female reproductive systems; events of the female menstrual cycle; barriers to fertilization; causes, modes of transmission, symptoms, treatments, and methods of prevention of major sexually transmitted diseases, including AIDS. Suggested Time Frame: 2 weeks
  • 2. Standard 2: Gametogenesis and Fertilization Key concepts: Mitosis; meiosis; probability; spermatogenesis, oogenesis; crossing over (recombination); fertilization; blocks to polyspermy Suggested Time Frame: 1 week Standard 3: Mendelian Genetics Key concepts: The genetic basis of heredity; the chromosomal and single gene basis of human FOR traits; dominant and recessive traits; Mendel's laws; gene linkage, recombination frequencies; sex-linked inheritance; use of Punnett squares; penetrance, variable expresstvity Suggested Time Frame: 1 week REFERENCE Standard 4: Non-classical Patterns of Inheritance Key concepts: Co-dominance; incomplete dominance; genomic imprinting; mitochondria) inheritance; uniparental disomy; multifactorial traits Suggested Time Frame: 1 week ONLY Standard 5: Chromosomal abnormalities Key concepts: Chromosomal disorders (numerical and structural); non-disjunction; karyotyping; clinical cytogenetics; mosaicism; sex chromosome abnormalities Suggested Time Frame: 2 weeks Standard 6: Cancer genetics Key concepts: Oncogenes; role of genes in familial cancers, such as breast cancer, ovarian cancer, and colon cancer; availability of testing for cancer causing genes, such as BRCA-1; pros and cons of testing Suggested Time Frame: 1 week Standard 7: Human Development Key concepts: The stages of embryonic and fetal development; determination, differentiation, and morphogenesis; details of heart, brain and facial development; multiple pregnancies, monozygotic and dizygotic twinning; the effects of teratogens (alcohol, drugs and infections) during pregnancy. Suggested Time Frame: 3 weeks Course proposal: Advanced Human Genetics and Development, June 1997 2
  • 3. Standard 8: Human Genetic and Fetal Abnormalities Key concepts: human genetic abnormalities and disorders; prenatal diagnosis and screening (e.g., amniocentesis, chorionic villus sampling, triple marker/ AFP screening, ultrasound); genetic counseling; causes, symptoms, demographics, testing and treatments for some inherited and congenital disorders, such as cystic fibrosis, sickle-cell anemia, Tay Sachs, Huntington's disease, Down Syndrome, cleft lip and palate, neural tube defects, achondroplasia, and phenylketonuria. Suggested Time Frame: 3 weeks FOR Standard 9: Human Genome Project , Biotechnology, and Ethical Issues Key concepts: The human genome project and modern technology of gene mapping and sequencing; genetic linkage analysis, DNA fingerprinting, gel electrophoresis, PCR (polymerase chain reaction), FISH (fluorescent in situ hybridization) and other probing techniques; the ethical issues surrounding genetic testing and REFERENCE other biotechnological applications, current issues in reproductive health and technology, such as in vitro fertilization (IVF), GIFT, ZIFT, pre-implantation gene testing, cloning of genes and organisms, transgenic organisms, overpopulation, forensic applications of DNA analysis, recombinant DNA and gene therapy. Suggested Time Frame: 4 weeks ONLY Methods of Student Evaluation: Percent of grade: 1. Quizzes (weekly) and tests (every 3 weeks) -- 35% 2. Laboratory and group projects -- 20% 3. Research project (8-10 pages) with oral report -- (requires use of some on-line references) -- 15% 4. Homework/ written assignments; presentation of current news articles related to course -- 15% 5. Comprehensive Final Exam -- 15% Laboratory Activities: 1. Mitosis and meiosis: study of live and/or prepared slides, illustrating phases of cell division. 2. Mitosis and meiosis: students use prepared models to demonstrate their understanding of each phase of mitosis, meiosis, and the events of crossing over and non-disjunction. 3. Cytogenetics lab: students analyze chromosome spreads (photocopied), prepare karyotypes, and suggest diagnostic results (e.g., "girl with Turner's syndrome"). 4. Gel electrophoresis labs: students perform a restriction digest of prepared DNA samples and then perform gel electrophoresis, stain gels with methylene blue, and analyze results to make a map of restriction sites, or interpret a simulated DNA fingerprinting exercise. Course proposal: Advanced Human Genetics and Development, June 1997 3
  • 4. 5. Drosophila genetics: students perform crosses of fruitflies to determine the mode of inheritance of various mutant traits, such as white eyes or vestigial wings (to be done over the course of 6-8 weeks) 6. Recombinant DNA lab: this is a paper lab in which students identify restriction sites then select appropriate restriction enzymes to "recombine" a sample of plasmid DNA with a human gene, and make a map of the resulting "recombinant DNA"; they explain how this process can be used to make useful human proteins, such as insulin, interferon, tPA, human r growth hormone, etc. 7. Transformation lab: students transform a harmless strain of E. coli with a prepared plasmid containing an ampicillin resistance gene and culture these bacteria (as well as a control group FOR of untransformed E. coli) on both ampicillin and non-ampicillin agar plates; students analyze results after incubation, calculate the transformation efficiency, and discuss applications of this technique, such as for recombinant DNA technology. REFERENCE ONLY Course proposal: Advanced Human Genetics and Development, June 1997 4