An Introduction to Human Molecular Genetics: Mechanisms of by Jack J. Pasternak

By Jack J. Pasternak

An advent to Human Molecular Genetics
moment Edition
Jack J. Pasternak
the second one variation of this across the world acclaimed textual content expands its insurance of the molecular genetics of inherited human ailments with the newest learn findings and discoveries. utilizing a distinct, systems-based strategy, the textual content bargains readers an intensive rationalization of the gene discovery strategy and the way faulty genes are associated with inherited ailment states in significant organ and tissue platforms. the entire most modern advancements in sensible genomics, proteomics, and microarray know-how were completely included into the text.
the 1st a part of the textual content introduces readers to the basics of cytogenetics and Mendelian genetics. subsequent, strategies and methods for gene manipulation, mapping, and isolation are tested. Readers will relatively savour the text's enormously thorough and transparent clarification of genetic mapping. the ultimate half positive aspects designated insurance of the molecular genetics of designated organic platforms, masking muscle, neurological, eye, melanoma, and mitochondrial issues. during the textual content, priceless figures and diagrams illustrate and make clear advanced material.
Readers accustomed to the 1st version will realize the text's similar lucid and fascinating kind, and should discover a wealth of recent and multiplied fabric that brings them absolutely modern with a present figuring out of the sector, including:
* New chapters on advanced genetic problems, genomic imprinting, and human inhabitants genetics
* improved and completely revised part on scientific genetics, protecting diagnostic trying out, molecular screening, and numerous treatments
this article is focused at upper-level undergraduate scholars, graduate scholars, and scientific scholars. it's also a good reference for researchers and physicians who want a clinically appropriate reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 knowing Human illness (pages 1–18):
Chapter 2 The Genetic approach: Chromosomes (pages 19–36):
Chapter three The Genetic procedure: 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 know-how (pages 107–152):
Chapter 6 Genetic and actual Mapping of the Human Genome (pages 153–188):
Chapter 7 learning Human affliction Genes (pages 189–202):
Chapter eight Bioinformatics: Genomics, practical Genomics, and Proteomics (pages 203–228):
Chapter nine Human inhabitants Genetics (pages 229–294):
Chapter 10 Molecular Genetics of complicated issues (pages 295–331):
Chapter eleven Genomic Imprinting: An Epigenetic amendment (pages 333–348):
Chapter 12 Molecular Genetics of Mitochondrial problems (pages 349–368):
Chapter thirteen Molecular Genetics of Muscle issues (pages 369–392):
Chapter 14 Molecular Genetics of Neurological problems (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 checking out, and administration of Genetic issues (pages 517–556):

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Extra resources for An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition

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Snider and Thiers (1993) described a case of exogenous ochronosis due to use of bleaching creams that contain hydroquinone by black women to lighten their complexion. Sandler et al. (1970) raised the question of whether parkinsonism occurs in increased frequency with alkaptonuria, either as a complication or as a syndromal entity separate from ordinary alkaptonuria. Phornphutkul et al. (2002) provided a review of the natural history of alkaptonuria in the year marking the one-hundredth anniversary of Garrod’s description of the disease as the first disorder in humans found to conform to the principles of mendelian autosomal recessive inheritance (Garrod, 1902).

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. The fields are not comprehensive essays, but rather they contain information culled from research articles. Initially, some readers may find the contents of a section arcane, overly technical, possibly disjointed, and too succinct. Moreover, because research is self-correcting, incremental, and produced at a rapid rate, some sections contain contradictory information.

The movement also pushed for and achieved the passage of widespread state legislation allowing court-ordered sterilization of individuals who, for various reasons, were considered unfit to have children. In 1927, the United States Supreme Court, by a vote of eight to one, upheld the right of states to implement sterilization for eugenic purposes. ” By the late 1920s, scientists understood that the genetic contribution to physical health, intelligence, and moral character was exceptionally complex.

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