By Jack J. Pasternak
An advent to Human Molecular Genetics
Jack J. Pasternak
the second one version of this the world over acclaimed textual content expands its assurance of the molecular genetics of inherited human illnesses with the newest examine findings and discoveries. utilizing a special, systems-based procedure, the textual content deals readers a radical clarification of the gene discovery strategy and the way faulty genes are associated with inherited ailment states in significant organ and tissue platforms. all of the 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, strategies and methods for gene manipulation, mapping, and isolation are tested. Readers will rather savour the text's enormously thorough and transparent clarification of genetic mapping. the ultimate half positive factors certain assurance of the molecular genetics of certain organic platforms, protecting muscle, neurological, eye, melanoma, and mitochondrial issues. in the course of the textual content, useful figures and diagrams illustrate and make clear complicated material.
Readers accustomed to the 1st version will realize the text's similar lucid and fascinating sort, and may discover a wealth of latest and improved fabric that brings them totally modern with a present knowing of the sector, including:
* New chapters on advanced genetic issues, genomic imprinting, and human inhabitants genetics
* improved and entirely revised part on medical genetics, overlaying diagnostic trying out, molecular screening, and diverse treatments
this article is concentrated at upper-level undergraduate scholars, graduate scholars, and scientific scholars. it's also an outstanding 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 disorder (pages 1–18):
Chapter 2 The Genetic method: Chromosomes (pages 19–36):
Chapter three The Genetic process: 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 sickness 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 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 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 issues (pages 517–556):
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Extra resources for An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition
Independently, Pollak et al. (1993) used homozygosity mapping to locate the alkaptonuria gene to 3q2 in a 16-cM region. They studied 2 consanguineous families with 4 affected children and 2 nonconsanguineous families which supported the linkage. They pointed out that Garnica et al. (1981) described coinheritance of alkaptonuria and sucraseisomaltase deficiency (222900), which maps to 3q25–q26. Furthermore, Steinmann et al. (1984) described coinheritance of neonatal severe hyperparathyroidism and alkaptonuria.
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. H. S. JENNINGS (1868–1947) B of humans to the next is maintained by the fusion of a sperm from a male parent with an unfertilized egg from a female parent to produce a fertilized egg (zygote).
Harvard University Press, Cambridge, MA. McKeown, T. 1988. The Origins of Human Disease. , Oxford. Métraux, G. S. and F. ). 1963. The Nineteenth Century World. Mentor Books, Toronto, Canada. Shannon, T. W. 1917. Eugenics or the Laws of Sex Life and Heredity. S. A. Mullikin, Marietta, OH. q u e s t i o n s 6. What is the rationale for studying genetic traits in twins? 7. Describe why a condition that appears to “run in a family” is not necessarily genetically determined. 8. Who were the first people to record an inherited defect within a family?
An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, Second Edition by Jack J. Pasternak