3Department of Molecular and Human Genetics, Baylor College of Medicine, 8Department of Molecular Medical Genetics, 9Department of. An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text. Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative.
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Journal information at comvafataha.gq Additional information about Human Molecular Genetics, including how to subscribe can. Additional information about Human Molecular Genetics, including how to China, 2Department of Integrated Genetics, Division of Human. HUMAN MOLECULAR GENETICS. VOLUME 24, NUMBER 5. 1 MARCH Contents. ARTICLES. A knockin mouse model of spinocerebellar ataxia type 3.
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First published: Print ISBN: Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems.
All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics.
Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. We are talking serious heredity here. The anecdotal style is unfamiliar and occasionally tedious but the stories do stay with you. The contents are comprehensive and range from the genetic mapping of disease genes through to an impressively up-to-date chapter on human gene therapy. The requisite chapters on basic science are included but their position in the book is such that one is just beginning to wonder how something is achieved.
The chapters covering the molecular genetics of cancer syndromes, neurological disorders and mitochondria disorders do contain enough distinct material to make them all worthwhile. Certainly, the arrangement of the material is a little strange at times, some of the terminology is not familiar to this reviewer at least, and one is left asking whether the occasional social comment should make it into a textbook?
However, despite this I do recommend this book, and strongly. The coverage is modern and well referenced. Once mutants have been isolated, the mutated genes can be molecularly identified. Forward saturation genetics is a method for treating organisms with a mutagen, then screens the organism's offspring for particular phenotypes. This type of genetic screening is used to find and identify all the genes involved in a trait.
In some organisms, such as yeast and mice, it is possible to induce the deletion of a particular gene, creating what's known as a gene "knockout" - the laboratory origin of so-called " knockout mice " for further study.
In other words this process involves the creation of transgenic organisms that do not express a gene of interest.
Alternative methods of reverse genetic research include the random induction of DNA deletions and subsequent selection for deletions in a gene of interest, as well as the application of RNA interference.
Main article: Gene therapy A mutation in a gene can cause encoded proteins and the cells that rely on those proteins to malfunction. Conditions related to gene mutations are called genetic disorders.