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 newest learn findings and discoveries. utilizing a different, systems-based method, the textual content deals readers an intensive clarification of the gene discovery approach and the way faulty genes are associated with inherited disorder states in significant organ and tissue structures. the entire most recent advancements in practical 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, concepts and methods for gene manipulation, mapping, and isolation are tested. Readers will quite get pleasure from the text's highly thorough and transparent clarification of genetic mapping. the ultimate half positive aspects precise assurance of the molecular genetics of distinctive organic platforms, protecting muscle, neurological, eye, melanoma, and mitochondrial problems. in the course of the textual content, valuable figures and diagrams illustrate and make clear advanced material.
Readers conversant in the 1st version will realize the text's similar lucid and fascinating type, and may discover a wealth of latest and extended fabric that brings them totally modern with a present figuring out of the sector, including:
* New chapters on complicated genetic issues, genomic imprinting, and human inhabitants genetics
* improved and completely revised part on medical genetics, protecting diagnostic trying out, molecular screening, and diverse treatments
this article is concentrated at upper-level undergraduate scholars, graduate scholars, and clinical 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 realizing Human disorder (pages 1–18):
Chapter 2 The Genetic method: 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 gaining knowledge of Human illness 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 problems (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 checking out, and administration of Genetic problems (pages 517–556):
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Additional info for An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition
The onset of prophase is marked by the condensation of the chromosomes. Outside the nuclear membrane, the two centrioles begin to separate from one another. By the end of prophase, the centrioles occupy a position 180° from each other at opposite poles (spindle poles), the nuclear membrane has disassembled, and the chromosomes are highly condensed. During early metaphase, chromosome condensation is nearly complete. 3). The joining point of a metaphase chromosome is the centromere (primary constriction).
By the 1920s, an excessive enthusiasm for theories of heredity attributed almost all aspects of human nature to genetic causes. For example, social evils—such as unemployment, crime, and pauperism—and social virtues— including financial success, piety, and resoluteness—were considered to be strictly genetically determined. It was believed that a person either possessed the genes for exemplary qualities or he/she did not. This view, which led to the formation of eugenic societies dedicated to preventing the so-called deterioration of the genetic makeup of future generations, was not based on any sound experimental evidence.
1902. The incidence of alkaptonuria: A study in chemical individuality. Lancet ii:1616–1620. r e v i e w of the draft version of the human genome sequence in 2001. This resource, which is continually updated, has streamlined human gene discovery. In addition, the characterization of disease-causing genes leads to defectivegene detection assays and more effective treatments for genetic diseases. , O. Temkin, and W. L. Strauss, Jr. ). 1968. Forerunners of Darwin: 1745–1859. Johns Hopkins Press, Baltimore, MD.