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An introduction to human molecular genetics : mechanisms of - download pdf or read online

By Jack J. Pasternak

ISBN-10: 0471474266

ISBN-13: 9780471474265

ISBN-10: 047171917X

ISBN-13: 9780471719175

ISBN-10: 0471719188

ISBN-13: 9780471719182

A pragmatic, simply available advisor for bench-top chemists, this publication makes a speciality of correctly employing computational chemistry options to daily chemistry problems.Provides nonmathematical factors of complicated themes in computational chemistry.Focuses on whilst and the way to use assorted computational techniques.Addresses computational chemistry connections to biochemical platforms and polymers.Provides a prioritized record of equipment for attacking tough computational chemistry difficulties, and compares merits and drawbacks of varied approximation techniques.Describes how the alternative of equipment of software program impacts standards for machine reminiscence and processing time An advent 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 version bankruptcy 1 figuring out Human affliction Human Genetic affliction Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics records OMIM: a major on-line resource of data approximately Human Genetic issues keywords precis References evaluate Questions bankruptcy 2 The Genetic method: Chromosomes Human Chromosomes preserving the Chromosome quantity cellphone department Cycle: The Mitotic strategy The Meiotic method Characterizing Human Chromosomes Chromosome Abnormalities complete Chromosome adjustments: Aneuploidy Chromosome Structural adjustments from the human genetics documents settling on the stages of the telephone Cycle key words precis References overview Questions bankruptcy three The Genetic procedure: Mendel s legislation of Inheritance and Genetic Linkage Dominance, Recessiveness, and Segregation self sustaining collection Genetic Linkage developing Genetic Maps Three-Point go 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 issues from the human genetics records Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in people The Logarithm of the possibility Ratio approach to Linkage research: LOD rating key phrases precis References overview 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 rules of mRNA Transcription from the human genetics documents Hemoglobinopathies and Thalassemias: An Abundance of Mutations Nucleotide series Alteration: Mutation Mutations of Structural Genes Nomenclature for Mutations Dominant Mutations and Genetic issues key phrases precis References assessment Questions bankruptcy five Recombinant DNA know-how restrict Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs via DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain response Human-Rodent Somatic mobile 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 limit Fragment size Polymorphism brief Tandem Repeat Polymorphism Mapping of a Genetic affliction Locus to a Chromosome place Multilocus Mapping of Human Chromosomes placing a illness 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 words precis References evaluation Questions bankruptcy 7 studying Human ailment Genes Cloning Human illness 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 quick Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation attempt keyword phrases precis References evaluation Questions bankruptcy eight Bioinformatics: Genomics, practical Genomics, and Proteomics Similarity seek of a DNA Database sensible Genomics DNA Microarray expertise Serial research of Gene Expression Proteomics Separation and identification

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Variations in length in chromosomes can occur with different treatments and staining procedures. In addition, certain groups of chromosomes, for example, chromosomes 8, 9, 10, and 11, have very similar lengths and centromere positions. With a homogeneous (solid) stain, it is almost impossible to recognize with consistency a specific member of such a similar group. 6). ” For example, when either a Giesma staining procedure or a quinacrine stain is used, different sets of bands called G-bands and Qbands, respectively, are observed.

5). Crossing over leads to new combinations of genes along a chromosome. ). The diplotene bivalents continue to condense, which leads into diakinesis. During diakinesis, the chiasmata recede from the centromeres of the bivalents and are released at the ends (telomeres) of condensed chromosomes. The centrioles become positioned at opposite poles, and the nuclear membrane disassembles. The metaphase of meiosis I (metaphase I) is the same, in principle, as the metaphase of a cell division cycle. 5).

At one extreme, children raised without significant human contact during their early years seem unable to develop a full range of speech, their learning is limited, and their ability to interact socially with other humans is highly constrained. But we also have learned that conditions such as PKU, fragile X syndrome, myotonic dystrophy, and many other disorders with serious effects on behavior and mental competence are unquestionably the result in each instance of an alteration of a single gene.

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

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