Molecular and genetic analysis of human traits / Gustavo Maroni.

Includes bibliographical references and index.

Cover -- Contents -- PREFACE -- CHAPTER 1 The Inheritance of Simple Mendelian Traits in Humans -- DETECTING MENDELIAN INHERITANCE IN HUMANS -- Test-Crosses and Pure Lines versus Pedigrees and Inferred Genotypes -- PATTERNS OF INHERITANCE AND EXAMPLES -- Autosomal Dominant Traits -- Autosomal Recessive Traits -- X-Linked Recessive Traits -- THE USE OF PEDIGREES TO PREDICT THE RESULTS OF MATINGS -- Probability of Individual Genotypes -- Probability of Group Outcomes -- GATHERING DATA TO TEST THE MODE OF INHERITANCE OF A TRAIT -- Pooling Data from Many Families and Ascertainment Errors -- INHERITANCE OF MULTIPLE TRAITS: INDEPENDENT ASSORTMENT AND LINKAGE -- Determination of Linkage from Human Pedigrees -- Genetic Recombination and LOD Scores -- Informative and Noninformative Matings -- Neutral Polymorphisms, Marker Loci, and Genetic Maps -- CONCLUSION -- EXERCISES -- REFERENCES -- Box 1.1 Early observations of Mendelian inheritance in humans -- Box 1.2 Internet sites -- EXAMPLE 1.1 Linkage of the Huntington's disease gene to an RFLP -- CHAPTER 2 Hereditary Traits That Do Not Show a Simple Mendelian Pattern -- SINGLE-GENE TRAITS LACKING A SIMPLE MENDEUAN PATTERN -- Variable Exprrssiviy and Incomplete Penetrance -- Complementation -- Phenocopies and Pleiotropy -- QUANTITATIVE TRAITS -- Multiple Alleles -- Polygenic Inheritance -- Major and Minor Genes -- COMPLEX TRAITS -- Epidemiological Analysis of Complex Traits -- LOCALIZATION OF GENES RESPONSIBLE FOR COMPLEX AND QUANTITATIVE TRAITS -- Linkage Analysis of Complex Traits -- Affected Pedigree Member (APM) or Allele-Sharing Methods -- Allelic Association -- Candidate Gene -- CONCLUSION: NATURE VERSUS NURTURE -- EXERCISES -- REFERENCES -- Example 2.1. Familial psoriasis -- Example 2.2. Familial breast cancer -- Example 2.3. Insulin-dependent diabetes mellitus -- Example 2.4. Male homosexuality -- Example 2.5. Dyslexia -- Example 2.6. Nonsyndromal autosomal recessive deafness -- Example 2.7. Neuroticism and genes for serotonin metabolism -- CHAPTER 3 Genome Organization I -- UNEXPRESSED DNA, REPETITIVE AND UNIQUE SEQUENCES -- Clustered, Highly Repetitive Sequences -- Small-Cluster, Intermediately Repeated DNA -- Dispersed, Intermediately Repeated Sequences -- Unique Sequence DNA -- EXPRESSED DNA, GENES AND GENE FAMILIES -- The Organization of RNA Polymerase I1 Genes: Intmns and Exons -- Gene Families -- Ribosomal RNA Genes -- CONCLUSION -- EXERCISES -- REFERENCES -- Box 3.1. Internet sites -- Example 3.1. The a family of highly repetitive DNA -- Example 3.2. Collagen -- Example 3.3. Cystic fibrosis -- Example 3.4. Duchenne muscular dystmphy -- Example 3.5. The globin gene family -- Example 3.6. The retinal visual pigments -- CHAPTER 4 Genome Organization II -- ISOLATION AND CHARACTERIZATION OF HUMAN GENES -- Expression Cloning -- Cloning by Homology to Other Species -- Reverse Genetics -- Positional Cloning -- THE HUMAN GENOME PROJECT -- The Genetic Map -- Physical Maps -- Other Tools -- The Sequence-Tagged Site (STS) Proposal -- Advances in the Human Genome Project -- CONCLUSION: THE END IN SIGHT -- EXERCISES -- REFERENCES -- Box 4.1. Ethical concerns -- Box 4.2. You're going to patent my genes71 -- Box 4.3. Internet sites -- Example 4.1. Isolation.

'Molecular and Genetic Analysis of Human Traits' is the first concise presentation of what is unique about human genetics. Designed to introduce human genetics to undergraduate and graduate students who are familiar with basic genetics, the text assumes knowledge of meiosis and Mendelian genetics as well as the basic principles of transmission of information from DNA to RNA to proteins. Professor Maroni's engaging presentation is both authoritative and student-oriented. Outstanding features highlight this groundbreaking first edition: Incorporates two basic themes throughout:'How do we establish that a trait is hereditary?' and'How can the properties of a trait be explained by the underlying molecular causes?' ; compares standard genetic approaches to those needed for studying inheritance in humans; prepares students for understanding the original literature by clear presentation of actual experiments; chapters 3 and 4 include thorough treatment of the human genome project as explained in its rationale, its development, and its conclusion; and, provides a comprehensive explanation of how genes are mapped by describing the four methods most commonly used: linkage analysis, affected pedigree member, allelic association, and candidate gene. It offers exceptional student-friendly pedagogy: Describes a wealth of applications, including: how genetics is used in understanding cancer (Chapter 8) and how genetic predictions impact counseling for families who are at risk (Chapter 9); addresses relevant clinical examples and key related ethical issues; the Human Genome Project Box includes the latest, culminating research; Internet Site Boxes refer to pertinent human genetics; and, URLs, chapter opening contents, margin notes, two-color figures, four-color insert, examples, conclusions, end-of-chapter exercises, over 150 original literature citation, and much more.

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