An introduction to human molecular genetics : mechanisms of by Jack J. Pasternak PDF

By Jack J. Pasternak

ISBN-10: 0471474266

ISBN-13: 9780471474265

ISBN-10: 047171917X

ISBN-13: 9780471719175

ISBN-10: 0471719188

ISBN-13: 9780471719182

A realistic, simply available advisor for bench-top chemists, this publication specializes in safely employing computational chemistry options to daily chemistry problems.Provides nonmathematical motives of complex subject matters in computational chemistry.Focuses on whilst and the way to use varied computational techniques.Addresses computational chemistry connections to biochemical platforms and polymers.Provides a prioritized checklist of equipment for attacking tricky computational chemistry difficulties, and compares benefits and drawbacks of varied approximation techniques.Describes how the alternative of tools of software program impacts specifications for machine reminiscence and processing time An creation to Human Molecular GeneticsSecond EditionJack J. PasternakThe moment variation of this across the world acclaimed textual content expands its insurance of the molecular genetics of inherited human illnesses with the most recent examine findings and discoveries. conceal Contents Preface Preface to the 1st variation bankruptcy 1 knowing Human sickness Human Genetic ailment Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics documents OMIM: a big on-line resource of data approximately Human Genetic issues key words precis References evaluate Questions bankruptcy 2 The Genetic approach: Chromosomes Human Chromosomes keeping the Chromosome quantity mobile department Cycle: The Mitotic strategy The Meiotic strategy Characterizing Human Chromosomes Chromosome Abnormalities entire Chromosome adjustments: Aneuploidy Chromosome Structural adjustments from the human genetics records identifying the levels of the telephone Cycle keywords precis References overview Questions bankruptcy three The Genetic approach: Mendel s legislation of Inheritance and Genetic Linkage Dominance, Recessiveness, and Segregation autonomous collection Genetic Linkage developing Genetic Maps Three-Point move Chi-Square Distribution: checking out for value a number of Alleles Human Genetics Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-Linked Inheritance utilizing Pedigrees to check Human Genetic issues from the human genetics records Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in people The Logarithm of the chance Ratio approach to Linkage research: LOD ranking key phrases precis References overview Questions bankruptcy four The Molecular Biology of the Gene houses of Genetic fabric constitution of DNA DNA Replication deciphering Genetic details: RNA and Protein Translation legislation of mRNA Transcription from the human genetics records Hemoglobinopathies and Thalassemias: An Abundance of Mutations Nucleotide series Alteration: Mutation Mutations of Structural Genes Nomenclature for Mutations Dominant Mutations and Genetic problems key phrases precis References overview Questions bankruptcy five Recombinant DNA expertise restrict Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs through DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain response Human-Rodent Somatic telephone Hybrids Human DNA Libraries Genomic Libraries Chromosome DNA Libraries from the human genetics documents Multicolor Karyotyping: Coloring Chromosomes Region-Specific Chromosome Libraries developing a cDNA Library key phrases precis References overview Questions bankruptcy 6 Genetic and actual Mapping of the Human Genome Genetic Mapping of Human Chromosomes Genetic Polymorphism limit Fragment size Polymorphism brief Tandem Repeat Polymorphism Mapping of a Genetic sickness Locus to a Chromosome situation Multilocus Mapping of Human Chromosomes placing a ailment Gene right into a Linkage Map Homozygosity Mapping Linkage Disequilibrium Mapping Radiation Hybrid Mapping Genotyping Single-Nucleotide Polymorphisms actual Mapping of the Human Genome Assembling Contigs from BAC Libraries from the human genetics records Comparative Genetic Maps Integration of Cytogenetic, Genetic, and actual Maps key phrases precis References evaluation Questions bankruptcy 7 gaining knowledge of Human affliction Genes Cloning Human disorder Genes Functional/Candidate Gene Cloning Positional-Candidate Gene Cloning Detection of Mutations in Human Genes Single-Strand Conformation Polymorphism research Denaturing Gradient Gel Electrophoresis Heteroduplex research from the human genetics records speedy Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation try keywords precis References evaluation Questions bankruptcy eight Bioinformatics: Genomics, sensible Genomics, and Proteomics Similarity seek of a DNA Database sensible Genomics DNA Microarray know-how Serial research of Gene Expression Proteomics Separation and identity

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After nine months, this results in the formation of an individual with many different cell types, tissues, and organs. This generative process is extremely complex and involves a vast array of biochemical, cellular, and tissue interactions. The genetic system plays a decisive role in this multifaceted program and can be appreciated from three perspectives. First, it is important to understand how each cell and zygote receives a complete set of the carriers of the genetic information (chromosomes).

From a genetic perspective, these kinds of studies are not very informative. Little is learned about the nature of the inheritance of a trait, how many genes are involved, whether a major gene plays a role in determining a trait, or what gene products contribute to that trait. Twin studies do, however, point researchers in particular directions so that they can gain a better understanding of the causes of complex conditions. By 1950, human genetic studies had made considerable contributions in identifying inherited diseases and complex conditions with genetic components.

Magner, L. N. 1992. A History of Medicine. Y. Mayr, E. 1982. The Growth of Biological Thought: Diversity, Evolution and Inheritance. 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?

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An introduction to human molecular genetics : mechanisms of inherited diseases by Jack J. Pasternak

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