By Jack J. Pasternak
An advent to Human Molecular Genetics
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 illnesses with the most recent study findings and discoveries. utilizing a different, systems-based technique, the textual content bargains readers an intensive clarification of the gene discovery strategy and the way faulty genes are associated with inherited affliction states in significant organ and tissue platforms. the entire most modern advancements in practical 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, suggestions and techniques for gene manipulation, mapping, and isolation are tested. Readers will rather savour the text's enormously thorough and transparent rationalization of genetic mapping. the ultimate half gains detailed insurance of the molecular genetics of precise organic platforms, overlaying muscle, neurological, eye, melanoma, and mitochondrial problems. in the course of the textual content, worthy figures and diagrams illustrate and make clear complicated material.
Readers acquainted with the 1st version will realize the text's related lucid and interesting type, and should discover a wealth of recent and elevated fabric that brings them absolutely brand new with a present knowing of the sphere, including:
* New chapters on advanced genetic problems, genomic imprinting, and human inhabitants genetics
* elevated and entirely revised part on scientific genetics, overlaying diagnostic trying out, molecular screening, and diverse treatments
this article is focused at upper-level undergraduate scholars, graduate scholars, and clinical scholars. it's also a very good reference for researchers and physicians who desire a clinically proper reference for the molecular genetics of inherited human diseases.Content:
Chapter 1 knowing Human sickness (pages 1–18):
Chapter 2 The Genetic process: Chromosomes (pages 19–36):
Chapter three The Genetic method: 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 issues (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 trying 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
1. What are the differences between infectious and noninfectious diseases? What are genetic diseases? 2. What is domestication? Without any knowledge of the principles of inheritance, how can plants and animals be domesticated? 3. qxd 3/4/05 8:20 PM Page 19 c h a p t e r Human Chromosomes The Genetic System: Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Anyone who declines the labor of becoming familiar with the fundamental features of the genetic system and its method of operation cuts himself off from the possibility of understanding the nature of man and the origin of his peculiarities.
5). In humans, the nuclei of cells produced by meiosis I contain 23 duplicated chromosomes, one duplicated chromosome for each chromosome pair. 4 Meiotic process. Meiosis I consists of G1, DNA synthesis (S), and G2 phases; prophase I (PI), which includes leptotene (L), zygotene (Z), pachytene (Pa), diplotene (D), and diakinesis (Di); metaphase I (MI), anaphase I (AI), and telophase I (TI). The products of meiosis I carry 23 duplicated chromosomes (23d) from cells that entered meiosis I with 46 chromosomes.
5. Outline and discuss critically the principal concerns of the supporters of the eugenics movement. 1. What are the differences between infectious and noninfectious diseases? What are genetic diseases? 2. What is domestication? Without any knowledge of the principles of inheritance, how can plants and animals be domesticated? 3. qxd 3/4/05 8:20 PM Page 19 c h a p t e r Human Chromosomes The Genetic System: Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Anyone who declines the labor of becoming familiar with the fundamental features of the genetic system and its method of operation cuts himself off from the possibility of understanding the nature of man and the origin of his peculiarities.