By Jack J. Pasternak
An creation to Human Molecular Genetics
Jack J. Pasternak
the second one version of this across the world acclaimed textual content expands its assurance of the molecular genetics of inherited human ailments with the newest learn findings and discoveries. utilizing a distinct, systems-based procedure, the textual content deals readers a radical clarification of the gene discovery method and the way faulty genes are associated with inherited ailment states in significant organ and tissue structures. the entire most up-to-date advancements in useful genomics, proteomics, and microarray expertise were completely integrated into the text.
the 1st a part of the textual content introduces readers to the basics of cytogenetics and Mendelian genetics. subsequent, ideas and techniques for gene manipulation, mapping, and isolation are tested. Readers will relatively get pleasure from the text's exceedingly thorough and transparent rationalization of genetic mapping. the ultimate half beneficial properties targeted insurance of the molecular genetics of targeted organic platforms, protecting muscle, neurological, eye, melanoma, and mitochondrial issues. during the textual content, important figures and diagrams illustrate and make clear advanced material.
Readers accustomed to the 1st variation will realize the text's similar lucid and fascinating sort, and should discover a wealth of latest and elevated fabric that brings them absolutely modern with a present knowing of the sector, including:
* New chapters on complicated genetic issues, genomic imprinting, and human inhabitants genetics
* increased and completely revised part on scientific genetics, masking diagnostic trying out, molecular screening, and diverse treatments
this article is focused at upper-level undergraduate scholars, graduate scholars, and scientific scholars. it's also an exceptional reference for researchers and physicians who want a clinically suitable reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 figuring out Human ailment (pages 1–18):
Chapter 2 The Genetic process: Chromosomes (pages 19–36):
Chapter three The Genetic approach: Mendel's legislation of Inheritance and Genetic Linkage (pages 37–74):
Chapter four The Molecular Biology of the Gene (pages 75–106):
Chapter five Recombinant DNA expertise (pages 107–152):
Chapter 6 Genetic and actual Mapping of the Human Genome (pages 153–188):
Chapter 7 researching Human sickness Genes (pages 189–202):
Chapter eight Bioinformatics: Genomics, sensible Genomics, and Proteomics (pages 203–228):
Chapter nine Human inhabitants Genetics (pages 229–294):
Chapter 10 Molecular Genetics of advanced issues (pages 295–331):
Chapter eleven Genomic Imprinting: An Epigenetic amendment (pages 333–348):
Chapter 12 Molecular Genetics of Mitochondrial issues (pages 349–368):
Chapter thirteen Molecular Genetics of Muscle issues (pages 369–392):
Chapter 14 Molecular Genetics of Neurological issues (pages 393–437):
Chapter 15 Molecular Genetics of the attention (pages 439–470):
Chapter sixteen Molecular Genetics of melanoma Syndromes (pages 471–516):
Chapter 17 Counseling, Diagnostic trying out, and administration of Genetic issues (pages 517–556):
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Additional info for An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition
Db=OMIM. For each specific human genetic disorder, an OMIM entry provides a body of technical detail that is updated at regular intervals. The entries vary in size according to the amount of published information that is available for a particular genetic disorder. Each entry is assigned a six-digit OMIM number that may include different symbols. Details about this nomenclature and all other aspects of OMIM are available on its home page. An entry has information, depending on the extent of current knowledge of a disorder, about clinical features, clinical management, molecular genetics, population genetics, animal models, and so on.
Discuss and describe the nature–nurture controversy. 4. What are “inborn errors of metabolism”? 10. Discuss the status of the study of human genetics in 1950. 5. Outline and discuss critically the principal concerns of the supporters of the eugenics movement. 1. What are the differences between infectious and noninfectious diseases? What are genetic diseases? 2. What is domestication? Without any knowledge of the principles of inheritance, how can plants and animals be domesticated? 3. qxd 3/4/05 8:20 PM Page 19 c h a p t e r Human Chromosomes The Genetic System: Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Anyone who declines the labor of becoming familiar with the fundamental features of the genetic system and its method of operation cuts himself off from the possibility of understanding the nature of man and the origin of his peculiarities.
Genes and Phenotypes To what extent do genes determine human nature? This question has been debated for centuries. ” To this day, we have little understanding of how the totality of the array of attributes, both biological and environmental, contributes to making each of us a unique personality with our own distinctive attitudes, tastes, behaviors, and abilities. We do know that this process, whatever it involves, is a complex mixture of genetic and nongenetic factors. At one extreme, children raised without significant human contact during their early years seem unable to develop a full range of speech, their learning is limited, and their ability to interact socially with other humans is highly constrained.