Read e-book online An Introduction to Human Molecular Genetics: Mechanisms of PDF

By Jack J. Pasternak

ISBN-10: 0471474266

ISBN-13: 9780471474265

ISBN-10: 0471719188

ISBN-13: 9780471719182

An creation to Human Molecular Genetics
moment Edition
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 illnesses with the newest study findings and discoveries. utilizing a distinct, systems-based process, the textual content deals readers an intensive rationalization of the gene discovery approach and the way faulty genes are associated with inherited affliction states in significant organ and tissue structures. all of the most recent advancements in sensible 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, ideas and techniques for gene manipulation, mapping, and isolation are tested. Readers will relatively get pleasure from the text's really thorough and transparent rationalization of genetic mapping. the ultimate half positive factors distinctive assurance of the molecular genetics of designated organic structures, overlaying muscle, neurological, eye, melanoma, and mitochondrial issues. in the course of the textual content, priceless figures and diagrams illustrate and make clear complicated material.
Readers accustomed to the 1st version will realize the text's similar lucid and fascinating sort, and may discover a wealth of recent and accelerated fabric that brings them absolutely modern with a present figuring out of the sector, including:
* New chapters on complicated genetic problems, genomic imprinting, and human inhabitants genetics
* multiplied and entirely revised part on medical genetics, masking 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 good reference for researchers and physicians who desire a clinically proper reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 figuring out Human sickness (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 researching Human sickness 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 problems (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 problems (pages 517–556):

Show description

Read or Download An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition PDF

Similar genetics books

Robust control design using H-p8s methods by Ian R. Petersen, Valery A. Ugrinovskii, Andrey V. Savkin PDF

This booklet presents a unified choice of very important, fresh effects for the layout of sturdy controllers for doubtful platforms. lots of the effects provided are in response to H¿ keep watch over concept, or its stochastic counterpart, threat delicate keep an eye on idea. critical to the philosophy of the e-book is the thought of an doubtful approach.

Download e-book for kindle: Information Extraction A Multidisciplinary Approach to an by Yorick Wilks (auth.), Maria Teresa Pazienza (eds.)

Details extraction (IE) is a brand new expertise permitting suitable content material to be extracted from textual info on hand electronically. IE primarily builds on normal language processing and computational linguistics, however it is usually heavily on the topic of the good demonstrated sector of data retrieval and contains studying.

Genetics of Bacterial Diversity - download pdf or read online

This article offers with the genetics and molecular biology of alternative micro organism, which perform medical, clinical, agricultural and biotechnological actions. Taking genetic variety as its subject matter, it illustrates phenomena equivalent to genetic structures controlling pathogenicity, symbiosis, chemotaxis, metabolic features, and differentiation

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

Example text

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). intellectual competency is not achieved.

During the G2 phase, components are produced that facilitate the distribution of one chromatid of each duplicated chromosome to a daughter cell. 2). A successful mitosis depends on the coordination of chromosome movement, the function of the subcellular organelles called centrioles, the activity of microtubules, the disassembly and reassembly of the nuclear membrane, and the cleavage of the original cell into two cells (cytokinesis). The onset of prophase is marked by the condensation of the chromosomes.

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.

Download PDF sample

An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition by Jack J. Pasternak

by David

Rated 4.05 of 5 – based on 15 votes