By Jack J. Pasternak
An creation to Human Molecular Genetics
Jack J. Pasternak
the second one version of this across the world acclaimed textual content expands its insurance of the molecular genetics of inherited human ailments with the most recent learn findings and discoveries. utilizing a different, systems-based technique, the textual content bargains readers an intensive rationalization of the gene discovery approach and the way faulty genes are associated with inherited sickness states in significant organ and tissue structures. all of the newest advancements in useful 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, recommendations and techniques for gene manipulation, mapping, and isolation are tested. Readers will quite savour the text's exceedingly thorough and transparent clarification of genetic mapping. the ultimate half positive aspects designated insurance of the molecular genetics of designated organic structures, masking muscle, neurological, eye, melanoma, and mitochondrial problems. in the course of the textual content, useful figures and diagrams illustrate and make clear complicated material.
Readers conversant in the 1st version will realize the text's similar lucid and interesting type, and should discover a wealth of latest and multiplied fabric that brings them totally brand new with a present realizing of the sphere, including:
* New chapters on advanced genetic issues, genomic imprinting, and human inhabitants genetics
* elevated and completely revised part on medical genetics, overlaying diagnostic checking out, molecular screening, and diverse treatments
this article is concentrated at upper-level undergraduate scholars, graduate scholars, and clinical scholars. it's also an outstanding reference for researchers and physicians who want a clinically correct reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 knowing Human ailment (pages 1–18):
Chapter 2 The Genetic process: 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 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 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 issues (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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Extra resources for An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition
They become tangled and form blockages that prevent adequate distribution of oxygen to the major organ systems, leading to tissue damage and causing severe pain. Sickle cell anemia was the first example, of which there are now hundreds, of a single amino acid alteration of a protein chain that is responsible for a human genetic disease. A quarter of a century would pass before researchers could sequence DNA routinely to determine the kinds of changes that occur at the level of the gene and cause many human genetic diseases.
Overall, OMIM is a superb source of information. The CREATION DATE V and EDIT HISTORY segments tell the user when the file became an OMIM entry and when it was last updated, respectively. If a disease-causing gene has been characterized, its OMIM entry contains a list of ALLELIC VARIANTS that briefly specifies the known mutational changes at various sites within the gene. For genes that have been studied thoroughly, such as the b-hemoglobin chain gene, there can be an extremely long list of allelic variants.
These regions do not readily bind standard chromosome stains. Relative chromosome length and other features are not entirely satisfactory in identifying each specific chromosome. Variations in length in chromosomes can occur with different treatments and staining procedures. In addition, certain groups of chromosomes, for example, chromosomes 8, 9, 10, and 11, have very similar lengths and centromere positions. With a homogeneous (solid) stain, it is almost impossible to recognize with consistency a specific member of such a similar group.
An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition by Jack J. Pasternak