By Jack J. Pasternak
An creation to Human Molecular Genetics
Jack J. Pasternak
the second one version of this the world over 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 strategy, the textual content deals readers an intensive clarification of the gene discovery method and the way faulty genes are associated with inherited ailment states in significant organ and tissue platforms. the entire most modern advancements in practical genomics, proteomics, and microarray know-how 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, innovations and techniques for gene manipulation, mapping, and isolation are tested. Readers will rather take pleasure in the text's exceedingly thorough and transparent rationalization of genetic mapping. the ultimate half gains specified insurance of the molecular genetics of particular organic platforms, masking muscle, neurological, eye, melanoma, and mitochondrial issues. through the textual content, priceless figures and diagrams illustrate and make clear complicated material.
Readers acquainted with the 1st version will realize the text's similar lucid and interesting variety, and may discover a wealth of latest and multiplied fabric that brings them absolutely brand new with a present realizing of the sphere, including:
* New chapters on advanced genetic problems, genomic imprinting, and human inhabitants genetics
* accelerated and entirely revised part on medical genetics, protecting diagnostic checking out, molecular screening, and numerous treatments
this article is focused at upper-level undergraduate scholars, graduate scholars, and scientific scholars. it's also a great reference for researchers and physicians who desire a clinically proper reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 knowing Human affliction (pages 1–18):
Chapter 2 The Genetic approach: Chromosomes (pages 19–36):
Chapter three The Genetic method: 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 gaining knowledge of Human illness Genes (pages 189–202):
Chapter eight Bioinformatics: Genomics, useful 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 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 trying 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
An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition, by Jack J. Pasternak. ISBN 0-471-47426-6 Copyright © 2005 by John Wiley & Sons, Inc. qxd 3/4/05 8:20 PM Page 20 20 Chapter 2 Clearly an effective process, the cell division cycle (mitotic cycle) ensures that after each cell division, each daughter cell receives the same number of chromosomes. However, this remarkably consistent pattern of chromosome distribution raises a provocative conundrum. Both sperm cells (spermatozoa) and unfertilized eggs (ova), which collectively are called gametes, are also the products of cell division.
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. But we also have learned that conditions such as PKU, fragile X syndrome, myotonic dystrophy, and many other disorders with serious effects on behavior and mental competence are unquestionably the result in each instance of an alteration of a single gene.
Q u e s t i o n s 6. What is the rationale for studying genetic traits in twins? 7. Describe why a condition that appears to “run in a family” is not necessarily genetically determined. 8. Who were the first people to record an inherited defect within a family? Describe in detail the features of the pattern of inheritance they observed. What is sickle cell anemia? How did the study of the cause of this disease play a role in the understanding of the molecular basis of genetic diseases? 9. Discuss and describe the nature–nurture controversy.