Introduction |
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1 |
(24) |
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19 |
(6) |
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Important Advances that Contributed to the Development of Genetics |
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19 |
(6) |
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25 |
(180) |
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26 |
(10) |
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Phylogenetic Tree of Living Organisms |
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26 |
(2) |
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28 |
(2) |
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Out of Africa: Toward Modern Humans |
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30 |
(2) |
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The Cell and Its Components |
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32 |
(2) |
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Genetic Background of Aging Processes |
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34 |
(2) |
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Molecular Basis of Genetics |
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36 |
(22) |
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36 |
(2) |
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38 |
(2) |
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40 |
(2) |
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Nucleotides and Nucleic Acids |
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42 |
(2) |
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44 |
(2) |
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DNA as a Carrier of Genetic Information |
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46 |
(2) |
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48 |
(2) |
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50 |
(2) |
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The Flow of Genetic Information: Transcription and Translation |
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52 |
(2) |
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54 |
(2) |
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Eukaryotic Gene Structure |
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56 |
(2) |
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58 |
(14) |
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58 |
(2) |
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60 |
(2) |
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62 |
(2) |
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Parallel DNA Sequencing (Next-Generation Sequencing) |
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64 |
(2) |
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66 |
(2) |
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68 |
(2) |
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Southern Blot Hybridization |
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70 |
(2) |
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72 |
(8) |
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72 |
(2) |
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74 |
(2) |
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Mutations Due to Base Modifications |
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76 |
(2) |
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78 |
(2) |
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80 |
(6) |
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80 |
(2) |
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82 |
(2) |
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Trinucleotide Repeat Expansion |
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84 |
(2) |
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86 |
(18) |
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86 |
(2) |
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Haploid and Diploid Yeast Cells |
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88 |
(2) |
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90 |
(2) |
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92 |
(2) |
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94 |
(2) |
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96 |
(2) |
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98 |
(2) |
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100 |
(2) |
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102 |
(2) |
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104 |
(28) |
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104 |
(2) |
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Transmission to the Next Generation |
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106 |
(2) |
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108 |
(2) |
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Phenotype and Genotype: Application in Genetic Counseling |
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110 |
(2) |
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Segregation of Parental Genotypes |
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112 |
(2) |
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114 |
(2) |
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Genetic Linkage and Recombination |
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116 |
(2) |
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Genetic Linkage and Association |
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118 |
(2) |
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Quantitative Genetic Traits |
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120 |
(2) |
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Distribution of Alleles in a Population |
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122 |
(2) |
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Hardy--Weinberg Equilibrium Principle |
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124 |
(2) |
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Geographical Differences in Allelic Distribution |
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126 |
(2) |
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128 |
(2) |
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130 |
(2) |
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132 |
(30) |
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132 |
(2) |
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134 |
(2) |
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Functional Elements of Chromosomes |
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136 |
(2) |
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138 |
(2) |
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Packing DNA in Chromosomes |
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140 |
(2) |
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142 |
(2) |
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144 |
(2) |
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The Banding Patterns of Human Chromosomes |
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146 |
(2) |
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Karyotype of Man and Mouse |
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148 |
(2) |
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150 |
(2) |
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Fluorescence in Situ Hybridization |
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152 |
(2) |
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Multicolor Fluorescence In Situ Hybridization (FISH) |
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154 |
(2) |
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156 |
(2) |
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158 |
(2) |
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Structural Chromosomal Aberrations |
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160 |
(2) |
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Regulation of Gene Function |
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162 |
(16) |
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Ribosomal RNA and Protein Assembly |
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162 |
(2) |
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164 |
(2) |
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Basic Principles of Gene Control |
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166 |
(2) |
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Regulation of Gene Expression in Eukaryotes |
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168 |
(2) |
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DNA--Protein Interactions |
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170 |
(2) |
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Other Forms of Transcription Control |
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172 |
(2) |
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174 |
(2) |
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176 |
(2) |
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178 |
(8) |
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178 |
(2) |
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Reversible Changes in Chromatin |
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180 |
(2) |
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182 |
(2) |
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Mammalian X Chromosome Inactivation |
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184 |
(2) |
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186 |
(10) |
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Cellular Signal Transduction |
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186 |
(2) |
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Heterotrimeric G Proteins |
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188 |
(2) |
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TGF β and Wnt/β-Catenin Signaling Pathways |
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190 |
(2) |
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Hedgehog and TNF Signal Pathways |
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192 |
(2) |
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The Notch/Delta Signaling Pathway |
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194 |
(2) |
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Genes in Embryonic Development |
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196 |
(9) |
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Embryonic Development Genes in Drosophila melanogaster |
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196 |
(2) |
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198 |
(2) |
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Zebrafish: A Translucent Vertebrate |
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200 |
(2) |
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Cell Lineage in a Nematode, Caenorhabditis elegans |
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202 |
(3) |
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205 |
(30) |
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206 |
(29) |
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Genomics: The Study of the Organization of Genomes |
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206 |
(2) |
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Genomes of Microorganisms |
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208 |
(2) |
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Architecture of the Human Genome |
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210 |
(2) |
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Regulatory Architecture of the Human Genome |
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212 |
(2) |
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Genome Analysis with DNA Microarrays |
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214 |
(2) |
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Genome Scan and Array--Comparative Genomic Hybridization |
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216 |
(2) |
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Comparative Genomic Hybridization |
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218 |
(2) |
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Genome-Wide Association Study |
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220 |
(2) |
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222 |
(2) |
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Genome Editing by the CRISPR-Cas System |
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224 |
(2) |
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Evolution of Genes and Genomes |
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226 |
(2) |
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228 |
(2) |
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Genomic Structure of the Human X and Y Chromosomes |
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230 |
(2) |
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The Mitochondrial Genome of Man |
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232 |
(3) |
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235 |
(168) |
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Genetic Classification of Diseases |
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236 |
(24) |
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236 |
(2) |
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Disorders due to Dysregulated Chromatin Structure |
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238 |
(2) |
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Disorders Resulting from Rearrangement of Cis-Regulatory Elements |
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240 |
(2) |
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242 |
(2) |
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244 |
(2) |
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246 |
(2) |
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Dysfunctional Cilia (Ciliopathies) |
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248 |
(2) |
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250 |
(2) |
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Dysregulated RAS-MAPK Signaling Pathway |
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252 |
(2) |
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Unstable Repeat Expansion |
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254 |
(2) |
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256 |
(2) |
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258 |
(2) |
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260 |
(16) |
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260 |
(2) |
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Chloride Channel Defects: Cystic Fibrosis |
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262 |
(2) |
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Genetic Defects in Ion Channels: LOT Syndromes |
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264 |
(2) |
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α1-Antitrypsin Deficiency |
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266 |
(2) |
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268 |
(2) |
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von Willebrand Bleeding Disease |
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270 |
(2) |
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272 |
(2) |
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Cytochrome P450 (CYP) Genes |
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274 |
(2) |
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276 |
(20) |
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Genetics of Diabetes Mellitus |
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276 |
(2) |
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Amino Acid Degradation and Urea Cycle Disorders |
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278 |
(2) |
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Cholesterol Biosynthesis Pathway |
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280 |
(2) |
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Distal Cholesterol Biosynthesis Pathway |
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282 |
(2) |
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Familial Hypercholesterolemia |
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284 |
(2) |
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286 |
(2) |
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Lysosomal Storage Disorders |
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288 |
(2) |
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290 |
(2) |
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Mucopolysaccharide Storage Diseases |
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292 |
(2) |
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294 |
(2) |
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296 |
(16) |
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Components of the Immune System |
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296 |
(2) |
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298 |
(2) |
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Generation of Antibody Diversity |
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300 |
(2) |
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Immunoglobulin Gene Rearrangement |
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302 |
(2) |
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304 |
(2) |
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306 |
(2) |
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Evolution of the Immunoglobulin Superfamily |
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308 |
(2) |
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Primary Immunodeficiency Diseases |
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310 |
(2) |
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312 |
(22) |
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312 |
(2) |
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Categories of Cancer Genes |
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314 |
(2) |
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316 |
(2) |
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The TP53 Tumor Suppressor Gene |
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318 |
(2) |
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The APC Gene and Polyposis Coli |
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320 |
(2) |
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Breast and Ovarian Cancer |
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322 |
(2) |
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Oncogenic Chromosome Translocations |
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324 |
(2) |
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326 |
(2) |
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328 |
(2) |
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Genomic Instability Diseases |
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330 |
(2) |
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DNA Excision Repair Disorders |
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332 |
(2) |
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Impaired Cell and Tissue Structure |
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334 |
(16) |
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Cytoskeletal Proteins in Erythrocytes |
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334 |
(2) |
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Hereditary Muscular Dystrophies |
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336 |
(2) |
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Duchenne's Muscular Dystrophy |
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338 |
(2) |
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FGF Receptor Mutations in Skeletal Dysplasias |
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340 |
(2) |
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Marian's and Loeys-Dietz Syndromes |
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342 |
(2) |
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Collagen Molecule Disorders |
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344 |
(2) |
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346 |
(2) |
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Molecular Basis of Bone Development |
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348 |
(2) |
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350 |
(12) |
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350 |
(2) |
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352 |
(2) |
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354 |
(2) |
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Mutations in Globin Genes |
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356 |
(2) |
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358 |
(2) |
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Hereditary Persistence of Fetal Hemoglobin (HPFH) |
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360 |
(2) |
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Sex Determination and Differentiation |
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362 |
(8) |
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Mammalian Sex Determination |
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362 |
(2) |
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364 |
(2) |
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Disorders of Sexual Development |
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366 |
(2) |
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Congenital Adrenal Hyperplasia |
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368 |
(2) |
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370 |
(12) |
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Rhodopsin, a Photoreceptor |
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370 |
(2) |
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Pigmentary Retinal Degeneration |
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372 |
(2) |
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374 |
(2) |
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376 |
(2) |
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378 |
(2) |
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Mammalian Taste Receptors |
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380 |
(2) |
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382 |
(6) |
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Numerical Chromosomal Aberrations |
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382 |
(2) |
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Triploidy, Monosomy X, Additional X or Y Chromosome |
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384 |
(2) |
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386 |
(2) |
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A Brief Guide to Genetic Diagnosis |
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388 |
(4) |
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A Brief Guide to Genetic Diagnosis |
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388 |
(2) |
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Gene and Stem Cell Therapy |
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390 |
(2) |
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Morbid Anatomy of the Human Genome |
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392 |
(6) |
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Chromosomal Locations of Human Genetic Diseases |
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392 |
(6) |
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Chromosomal Locations---Alphabetical List |
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398 |
(5) |
Appendix |
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403 |
(18) |
Glossary |
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421 |
(26) |
Index |
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447 |
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