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

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 most recent examine findings and discoveries. utilizing a distinct, systems-based technique, the textual content deals readers an intensive clarification of the gene discovery method and the way faulty genes are associated with inherited affliction states in significant organ and tissue structures. the entire most modern advancements in useful 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, concepts and methods for gene manipulation, mapping, and isolation are tested. Readers will fairly have fun with the text's highly thorough and transparent rationalization of genetic mapping. the ultimate half beneficial properties designated assurance of the molecular genetics of detailed organic structures, protecting muscle, neurological, eye, melanoma, and mitochondrial issues. during the textual content, beneficial figures and diagrams illustrate and make clear advanced material.
Readers acquainted with the 1st version will realize the text's similar lucid and fascinating sort, and should discover a wealth of latest and extended fabric that brings them totally modern with a present knowing of the sector, including:
* New chapters on complicated genetic issues, genomic imprinting, and human inhabitants genetics
* increased and entirely revised part on scientific genetics, overlaying diagnostic trying out, molecular screening, and numerous treatments
this article is focused at upper-level undergraduate scholars, graduate scholars, and clinical 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 figuring out Human sickness (pages 1–18):
Chapter 2 The Genetic method: 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 know-how (pages 107–152):
Chapter 6 Genetic and actual Mapping of the Human Genome (pages 153–188):
Chapter 7 studying 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 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):

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

Sample text

The nature–nurture argument becomes most heated when it deals with complex traits, such as intelligence, that cannot be precisely defined genetically. Currently, many aspects of human nature seem to have genetic components. However, the characteristics that are most studied from this perspective have been found to be so complex and interwoven with contributions from both environmental and genetic factors that it is impossible to determine the specific role of genes in forming these behaviors. Despite successes and controversies, by the 1950s the study of human genetics and genetic studies in general needed a scientific breakthrough to establish new momentum in the field.

In a murine model of alkaptonuria that had been created with ethylnitrosurea by Montagutelli et al. (1994), they observed a dose-dependent reduction in urinary output of homogentisic acid with administration of NTBC. Phornphutkul et al. 13 g per day after a 10-day course of nitisinone. In a 59-year-old woman, similar reductions were observed after 9 days of treatment. Plasma tyrosine levels in these patients rose, with no clinical signs or symptoms. They emphasized that the long-term safety and efficacy of this treatment requires further evaluation.

The band numbering system was initially created when about 400 bands for an entire haploid human chromosome set were known. To identify specific chromosome segments, the chromosome arms, if possible, were divided into regions. Consistent and distinct morphological features (landmarks) were used to designate each chromosome region.

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