Human Genetics - Concepts and Applications (Lewis), 9th Edition

Human Genetics - Concepts and Applications (Lewis), 9th Edition

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Chapter 1: Overview of Genetics Chapter Outline CHAPTER OVERVIEW Chapter 1 is a synopsis of the basic concepts of genetics and introduces many aspects of daily life in which genetic information is important. Foundational concepts and terms are introduced. A new era of genomics has begun. Researchers study the human genome at the gene, genome and expression levels. The traditional focus on single-gene traits has broadened with the understanding that most genes do not act alone, but interact with other genes and the environment in complex ways. In health care, genetic information is being used to design diagnostic and predictive genetic screens based on single nucleotide polymorphism (SNPs). Genetic information is also used for identification and commercial purposes. The technique known as DNA profiling compares patterns in DNA sequences between individuals and is very useful in forensic analysis and understanding of historical events such as human history and ancestry. Genetically modified (GM) transgenic plants and animals contain genes from other species added to their genomes. The technique is being used to rapidly introduce valuable traits into organisms for agricultural purposes. Genomic techniques are being used to enhance our understanding of ecosystems. CHAPTER OUTLINE 1.1 Introducing Genes 1. Genetics is a branch of biology concerned with heredity and variation. With the completion of the Human Genome Project, it has grown from a largely academic science to a clinical science with practical and societal implications. 2. Genes are the unit of inheritance and are composed of DNA. 3. An organism's genome is its complete set of genetic information. 4. Genomics is a field of study that uses genome information to answer questions in health, research, and the environment. 5. Bioethics is a field of study concerned with issues of privacy, confidentiality, and discrimination that arise from the availability of new genetic knowledge. 1.2 Levels of Genetics The Instructions: DNA, Genes, Chromosomes, and Genomes 1. The effects of genes are noticeable at the molecular, cellular, individual, and population levels. 2. Genes are DNA sequences that instruct cells to produce particular proteins, which in turn determine traits. 3. The field of proteomics studies the production of proteins within specific cell types. 4. Human genes known to cause genetic disorders have been catalogued in the Online Mendelian Inheritance in Man (MIM) database. 5. Genes can exist in more than one form and the variants, termed alleles, arise by mutation. 6. A polymorphism is a particular sequence of DNA that varies in one percent or more of the population. 1
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This note was uploaded on 05/20/2010 for the course SOCIAL SCI Social Sci taught by Professor N/a during the Spring '10 term at Open Uni..

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Human Genetics - Concepts and Applications (Lewis), 9th Edition

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