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Human molecular genetics 3

Author: T Strachan; Andrew P Read
Publisher: New York ; London : Garland Science, ©2004.
Edition/Format:   Print book : English : 3rd edView all editions and formats
Database:WorldCat
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Now in its third edition, Human Molecular Genetics continues to provide authoritative guidance on the principles underlying human molecular genetics. The content and organisation has been  Read more...

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Document Type: Book
All Authors / Contributors: T Strachan; Andrew P Read
ISBN: 0815341849 0815341822 0815341830 9780815341840 9780815341826 9780815341833
OCLC Number: 53854060
Description: xxv, 674 pages : illustrations (chiefly color) ; 29 cm
Contents: Chapter 1 DNA structure and gene expression 3 --
1.1 Building blocks and chemical bonds in DNA, RNA and polypeptides 4 --
1.2 DNA structure and replication 8 --
Box 1.1 Examples of the importance of hydrogen bonding in nucleic acids and proteins 10 --
Box 1.2 Major classes of proteins used in the DNA replication machinery 12 --
1.3 RNA transcription and gene expression 13 --
1.4 RNA processing 19 --
1.5 Translation, post-translational processing and protein structure 23 --
Chapter 2 Chromosome structure and function 33 --
2.1 Ploidy and the cell cycle 34 --
2.2 Structure and function of chromosomes 34 --
Box 2.1 The mitotic spindle and its components 37 --
2.3 Mitosis and meiosis are the two types of cell division 40 --
2.4 Studying human chromosomes 44 --
Box 2.2 Chromosome banding 48 --
Box 2.3 Human chromosome nomenclature 49 --
2.5 Chromosome abnormalities 51 --
Box 2.4 Nomenclature of chromosome abnormalities 53 --
Chapter 3 Cells and development 59 --
3.1 The structure and diversity of cells 60 --
Box 3.1 Intracellular organization of animal cells 62 --
Box 3.2 The cytoskeleton: the key to cell movement and cell shape and a major framework for intracellular transport 64 --
3.2 Cell interactions 66 --
3.4 The specialization of cells during development 72 --
Box 3.3 Animal models of development 73 --
Box 3.4 Twinning in human embryos 74 --
Box 3.5 Where our tissues come from --
the developmental hierarchy in mammals 75 --
Box 3.6 The diversity of human cells 76 --
3.5 Pattern formation in development 79 --
3.6 Morphogenesis 81 --
Box 3.7 Polarizing the mammalian embryo --
signals and gene products 82 --
3.7 Early human development: fertilization to gastrulation 86 --
Box 3.8 Extra-embryonic membranes and the placenta 89 --
Box 3.9 Sex determination: genes and the environment in development 93 --
3.8 Neural development 94 --
3.9 Conservation of developmental pathways 97 --
Chapter 4 Genes in pedigrees and populations 101 --
4.1 Monogenic versus multifactorial inheritance 102 --
4.2 Mendelian pedigree patterns 102 --
Box 4.1 Characteristics of the Mendelian patterns of inheritance 104 --
Box 4.2 The complementation test to discover whether two recessive characters are determined by allelic genes 106 --
4.3 Complications to the basic Mendelian pedigree patterns 106 --
4.4 Genetics of multifactorial characters: the polygenic-threshold theory 111 --
Box 4.3 Two common misconceptions about regression to the mean 114 --
Box 4.4 Partitioning of variance 115 --
4.5 Factors affecting gene frequencies 117 --
Box 4.5 Hardy-Weinberg equilibrium genotype frequencies for allele frequencies p(A1) and q (A2) 117 --
Box 4.6 The Hardy-Weinberg distribution can be used (with caution) to calculate carrier frequencies and simple risks for counseling 118 --
Box 4.7 Mutation-selection equilibrium 118 --
Box 4.8 Selection in favor of heterozygotes for CF 119 --
Chapter 5 Amplifying DNA: PCR and cell-based DNA cloning 121 --
5.1 The importance of DNA cloning 122 --
5.2 PCR: basic features and applications 123 --
Box 5.1 A glossary of PCR methods 124 --
5.3 Principles of cell-based DNA cloning 129 --
Box 5.2 Restriction endonucleases and modification-restriction systems 129 --
Box 5.3 Nonsense suppressor mutations 138 --
Box 5.4 The importance of sequence tagged sites (STSs) 138 --
5.4 Cloning systems for amplifying different sized fragments 138 --
5.5 Cloning systems for producing single-stranded and mutagenized DNA 144 --
5.6 Cloning systems designed to express genes 147 --
Box 5.5 Transferring genes into cultured animal cells 152 --
Chapter 6 Nucleic acid hybridization: principles and applications 155 --
6.1 Preparation of nucleic acid probes 156 --
Box 6.1 Principles of autoradiography 159 --
6.2 Principles of nucleic acid hybridization 161 --
Box 6.2 Fluorescence labeling and detection systems 164 --
Box 6.3 A glossary of nucleic acid hybridization 166 --
6.3 Nucleic acid hybridization assays using cloned DNA probes to screen uncloned nucleic acid populations 168 --
Box 6.4 Standard and reverse nucleic acid hybridization assays 169 --
6.4 Hybridization assays using cloned target DNA and microarrays 174 --
Chapter 7 Analyzing DNA and gene structure, variation and expression 181 --
7.1 Sequencing and genotyping DNA 182 --
Box 7.1 Producing single-stranded DNA sequencing templates 182 --
7.2 Identifying genes in cloned DNA and establishing their structure 186 --
Box 7.2 Common classes of DNA polymorphism which are amenable to simple genotyping methods 187 --
7.3 Studying gene expression 190 --
Box 7.3 Database homology searching 192 --
Box 7.4 Obtaining antibodies 200 --
Part 2 The human genome and its relationship to other genomes 205 --
Chapter 8 Genome projects and model organisms 207 --
8.1 The ground-breaking importance of genome projects 208 --
Box 8.1 A genomics glossary 209 --
8.2 Background and organization of the Human Genome Project 210 --
8.3 How the human genome was mapped and sequenced 212 --
Box 8.2 Human gene and DNA segment nomenclature 212 --
Box 8.3 Major milestones in mapping and sequencing the human genome 213 --
Box 8.4 Hybrid cell mapping 215 --
Box 8.5 Physical mapping by building clone contigs 218 --
Box 8.6 Co-operation, competition and controversy in the genome projects 220 --
8.4 Genome projects for model organisms 226 --
Box 8.7 Model unicellular organisms 227 --
Box 8.8 Model multicellular animals for understanding development, disease and gene function 230 --
Chapter 9 Organization of the human genome 239 --
9.1 General organization of the human genome 240 --
Box 9.1 Genome copy number variation in human cells 242 --
Box 9.2 The limited autonomy of the mitochondrial genome 243 --
Box 9.3 DNA methylation and CpG islands 246 --
9.2 Organization, distribution and function of human RNA genes 247 --
Box 9.4 Anticodon specificity of eukaryotic cytoplasmic tRNAs 249 --
9.3 Organization, distribution and function of human polypeptide-encoding genes 253 --
Box 9.5 Human genome and human gene statistics 255 --
9.4 Tandemly repeated noncoding DNA 265 --
9.5 Interspersed repetitive noncoding DNA 268 --
Chapter 10 Human gene expression 275 --
10.1 An overview of gene expression in human cells 276 --
Box 10.1 Spatial and temporal restriction of gene expression in mammalian cells 276 --
10.2 Control of gene expression by binding of trans-acting protein factors to cis-acting regulatory sequences in DNA and RNA 277 --
Box 10.2 Classes of cis-acting sequence elements involved in regulating transcription of polypeptide-encoding genes 283 --
10.3 Alternative transcription and processing of individual genes 291 --
Box 10.3 Alternative splicing can alter the functional properties of a protein 293 --
10.4 Differential gene expression: origins through asymmetry and perpetuation through epigenetic mechanisms such as DNA methylation 294 --
10.5 Long range control of gene expression and imprinting 298 --
Box 10.4 Mechanisms resulting in monoallelic expression from biallelic genes in human cells 302 --
Box 10.5 The nonequivalence of the maternal and paternal genomes 302 --
10.6 The unique organization and expression of Ig and TCR genes 306 --
Chapter 11 Instability of the human genome: mutation and DNA repair 315 --
11.1 An overview of mutation, polymorphism, and DNA repair 316 --
11.2 Simple mutations 316 --
Box 11.1 Classes of genetic polymorphisms and sequence variation 317 --
Box 11.2 Mechanisms that affect the population frequency of alleles 319 --
Box 11.3 Classes of single base substitution in polypeptide-encoding DNA 321 --
Box 11.4 Sex differences in mutation rate and the question of male-driven evolution 326 --
11.3 Genetic mechanisms which result in sequence exchanges between repeats 329 --
11.4 Pathogenic mutations 331 --
11.5 The pathogenic potential of repeated sequences 337 --
11.6 DNA repair 344 --
Chapter 12 Our place in the tree of life 351 --
12.1 Evolution of gene structure and duplicated genes 352 --
Box 12.1 Intron groups 353 --
Box 12.2 Symmetrical exons and intron phases 355 --
Box 12.3 Gene duplication mechanisms and paralogy 357 --
12.2 Evolution of chromosomes and genomes 361 --
Box 12.4 The universal tree of life and horizontal gene transfer 362 --
12.3 Molecular phylogenetics and comparative genomics 372 --
12.4 What makes us human? 377 --
Box 12.5 A glossary of common metazoan phylogenetic groups and terms 383 --
12.5 Evolution of human populations 385 --
Box 12.6 Coalescence analyses 389 --
Part 3 Mapping and identifying disease genes and mutations 395 --
Chapter 13 Genetic mapping of Mendelian characters 397 --
13.1 Recombinants and nonrecombinants 398 --
13.2 Genetic markers 402 --
Box 13.1 The development of human genetic markers 403 --
Box 13.2 Informative and uninformative meioses 404 --
13.3 Two-point mapping 404 --
Box 13.3 Calculation of lod scores for the families in Figure 13.6 406 --
13.4 Multipoint mapping is more efficient than two-point mapping 407 --
Box 13.4 Bayesian calculation of linkage threshold 407 --
13.5 Fine-mapping using extended pedigrees and ancestral haplotypes 408 --
13.6 Standard lod score analysis is not without problems 411 --
Chapter 14 Identifying human disease genes 415 --
14.1 Principles and strategies in identifying disease genes 416 --
14.2 Position-independent strategies for identifying disease genes 416 --
14.3 Positional cloning 418 --
Box 14.1 Transcript mapping: laboratory methods that supplement database analysis for identifying expressed sequences within genomic clones 421.
Other Titles: Human molecular genetics three
Responsibility: Tom Strachan and Andrew P. Read.
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"This book is an excellent companion for students in human genetics or for researchers that want to gain background and knowledge in this field." (Human Genetics Journal)

 
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