Download e-book for iPad: An introduction to human molecular genetics : mechanisms of by Jack J. Pasternak

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 consultant for bench-top chemists, this ebook specializes in safely employing computational chemistry strategies to daily chemistry problems.Provides nonmathematical factors of complex issues in computational chemistry.Focuses on while and the way to use varied computational techniques.Addresses computational chemistry connections to biochemical platforms and polymers.Provides a prioritized record of tools for attacking tricky computational chemistry difficulties, and compares merits and downsides of varied approximation techniques.Describes how the alternative of tools of software program impacts requisites for computing device 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. hide Contents Preface Preface to the 1st version bankruptcy 1 knowing Human ailment Human Genetic sickness Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics documents OMIM: an incredible on-line resource of knowledge approximately Human Genetic issues key phrases precis References evaluate Questions bankruptcy 2 The Genetic procedure: Chromosomes Human Chromosomes conserving the Chromosome quantity telephone department Cycle: The Mitotic procedure The Meiotic procedure Characterizing Human Chromosomes Chromosome Abnormalities complete Chromosome alterations: Aneuploidy Chromosome Structural alterations from the human genetics documents choosing the stages of the phone Cycle key phrases precis References overview Questions bankruptcy three The Genetic approach: Mendel s legislation of Inheritance and Genetic Linkage Dominance, Recessiveness, and Segregation self sufficient collection Genetic Linkage developing Genetic Maps Three-Point move Chi-Square Distribution: trying out for importance a number of Alleles Human Genetics Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-Linked Inheritance utilizing Pedigrees to check Human Genetic problems from the human genetics documents Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in people The Logarithm of the possibility Ratio approach to Linkage research: LOD ranking key words precis References evaluation Questions bankruptcy four The Molecular Biology of the Gene houses of Genetic fabric constitution of DNA DNA Replication interpreting Genetic details: RNA and Protein Translation law 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 words precis References evaluation Questions bankruptcy five Recombinant DNA expertise restrict Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs by means of DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain response Human-Rodent Somatic mobilephone Hybrids Human DNA Libraries Genomic Libraries Chromosome DNA Libraries from the human genetics records Multicolor Karyotyping: Coloring Chromosomes Region-Specific Chromosome Libraries developing a cDNA Library keywords precis References overview Questions bankruptcy 6 Genetic and actual Mapping of the Human Genome Genetic Mapping of Human Chromosomes Genetic Polymorphism restrict Fragment size Polymorphism brief Tandem Repeat Polymorphism Mapping of a Genetic disorder 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 documents Comparative Genetic Maps Integration of Cytogenetic, Genetic, and actual Maps key phrases precis References assessment Questions bankruptcy 7 gaining knowledge of Human affliction Genes Cloning Human affliction 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 documents speedy Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation attempt keyword phrases precis References assessment Questions bankruptcy eight Bioinformatics: Genomics, practical Genomics, and Proteomics Similarity seek of a DNA Database practical Genomics DNA Microarray expertise Serial research of Gene Expression Proteomics Separation and identity

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Download e-book for iPad: An introduction to human molecular genetics : mechanisms of by Jack J. Pasternak

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Historically, the latter school of thought was often inclined to accept, without sufficient proof, various attributes as genetically determined. Those with this viewpoint often have allowed both social and political ideology—not human genetics—to decide which human characteristics are inherited. And, for those characteristics that were considered to have a negative impact on society, the proposed remedies were driven by political convictions, not by medical or scientific reasoning. Even today, the nature–nurture controversy is not entirely resolved.

Mild and severe dietary reduction of protein intake alone also sub- stantially reduced the excretion of BQA, whereas the level of HGA excretion could not be drastically reduced. Such an extreme protein restriction would not, however, have been acceptable for a longer period of time. They concluded that supplementation of ascorbic acid in doses of 1 g/day represents a simple and rational treatment in patients with alkaptonuria. ” He explored the possibilities and indicated that model animal systems, either those representing known spontaneous hereditary deficiencies of homogentisic acid or appropriate “knockout” animals with created deficiencies of the enzyme, need to be tested before human trials are undertaken.

Some, such as alkaptonuria, are benign, whereas others lead to serious complications. Phenylketonuria (PKU), for example, can cause severe mental retardation. Tay–Sachs disease leads to death, in most cases before the affected child reaches the age of 10. Other defective enzymes do not allow any form of development to occur. In a number of conditions early death is inevitable, and in others lifelong suffering is a prevalent feature of the disorder. For the most part, studies of human genetics are based on inherited disorders that enable some form of survival.

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


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