Human Genetics: Concepts and Applications

Cover Page......Page 1
Title Page......Page 5
Copyright Page......Page 6
About the Author......Page 7
Dedication\n......Page 8
Brief Contents......Page 9
Contents......Page 10
Preface......Page 15
The Human Touch......Page 18
Applying Human Genetics......Page 19
The Lewis Guided Learning System......Page 20
CHAPTER 1: Overview of Genetics......Page 27
1.1 Introducing Genes......Page 28
1.2 Levels of Genetics......Page 30
1.3 Genes and Their Environment......Page 34
1.4 Applications of Genetics......Page 35
CHAPTER 2: Cells......Page 44
2.2 Cell Components......Page 45
2.3 Cell Division and Death......Page 56
2.4 Cell-Cell Interactions......Page 61
2.5 Stem Cells......Page 62
CHAPTER 3: Meiosis and Development......Page 70
3.1 The Reproductive System......Page 71
3.2 Meiosis......Page 72
3.3 Gamete Maturation......Page 75
3.4 Prenatal Development......Page 79
3.5 Birth Defects......Page 86
3.6 Maturation and Aging......Page 88
CHAPTER 4: Single-Gene Inheritance......Page 95
4.1 A Tale of Two Families......Page 96
4.2 Following the Inheritance of One Gene—Segregation......Page 97
4.3 Single-Gene Inheritance in Humans......Page 101
4.4 Following the Inheritance of Two Genes—Independent Assortment......Page 105
4.5 Pedigree Analysis......Page 108
CHAPTER 5: Beyond Mendel’s Laws......Page 116
5.2 When Gene Expression Appears to AlterMendelian Ratios......Page 117
5.3 Mitochondrial Genes......Page 124
5.4 Linkage......Page 127
CHAPTER 6: Matters of Sex......Page 136
6.1 Our Sexual Selves......Page 137
6.2 Traits Inherited on Sex Chromosomes......Page 143
6.3 Sex-Limited and Sex-Influenced Traits......Page 148
6.4 X Inactivation......Page 149
6.5 Genomic Imprinting......Page 152
CHAPTER 7: Multifactorial Traits......Page 158
7.1 Genes and the Environment Mold Traits......Page 159
7.2 Polygenic Traits Are Continuously Varying......Page 160
7.3 Traditional Approaches to InvestigatingMultifactorial Traits......Page 164
7.4 Genome-Wide Association Studies......Page 169
7.5 A Closer Look: Body Weight......Page 172
CHAPTER 8: Genetics of Behavior......Page 178
8.1 Genes and Behavior......Page 179
8.2 Eating Disorders......Page 180
8.3 Sleep......Page 181
8.4 Intelligence......Page 182
8.5 Drug Addiction......Page 183
8.6 Mood Disorders......Page 185
8.7 Schizophrenia......Page 186
8.8 Autism......Page 188
CHAPTER 9: DNA Structureand Replication......Page 194
9.1 Experiments Identify and Describe the Genetic Materia......Page 195
9.2 DNA Structure......Page 198
9.3 DNA Replication—Maintaining GeneticInformation......Page 201
CHAPTER 10: Gene Action: From DNA to Protein......Page 208
10.2 Transcription......Page 209
10.3 Translation of a Protein......Page 214
10.4 Processing a Protein......Page 220
CHAPTER 11: Gene Expression and Epigenetics\n......Page 228
11.1 Gene Expression Through Time and Tissue......Page 229
11.2 Control of Gene Expression......Page 232
11.3 Maximizing Genetic Information......Page 234
11.4 Most of the Human Genome Does Not Encode Protein......Page 236
CHAPTER 12: Gene Mutation......Page 240
12.1 The Nature of Mutation......Page 241
12.2 Two Mutations......Page 242
12.3 Causes of Mutation......Page 245
12.4 Types of Mutations......Page 250
12.5 The Importance of Position......Page 256
12.6 DNA Repair......Page 258
CHAPTER 13: Chromosomes......Page 266
13.1 Portrait of a Chromosome......Page 267
13.2 Visualizing Chromosomes......Page 269
13.3 Abnormal Chromosome Number......Page 274
13.4 Abnormal Chromosome Structure......Page 281
13.5 Uniparental Disomy—ADouble Dose from One Parent......Page 287
CHAPTER 14: Constant Allele Frequencies......Page 291
14.1 Population Genetics Underlies Evolution......Page 292
14.2 Constant Allele Frequencies......Page 293
14.3 Applying Hardy-Weinberg Equilibrium......Page 295
14.4 DNA Profiling Uses Hardy-Weinberg Assumptions......Page 296
CHAPTER 15: Changing Allele Frequencies......Page 309
15.1 Nonrandom Mating......Page 310
15.2 Migration......Page 312
15.3 Genetic Drift......Page 313
15.4 Mutation......Page 317
15.5 Natural Selection......Page 318
15.6 Putting It All Together: PKU......Page 324
15.7 Eugenics......Page 325
CHAPTER 16: Human Ancestry......Page 333
16.1 Human Origins......Page 334
16.2 Molecular Evolution......Page 342
16.3 Molecular Clocks......Page 349
16.4 The Peopling of the Planet......Page 351
CHAPTER 17: Genetics of Immunity......Page 359
17.1 The Importance of Cell Surfaces......Page 360
17.2 The Human Immune System......Page 362
17.3 Abnormal Immunity......Page 367
17.4 Altering Immunity......Page 373
17.5 A Genomic View of Immunity—The Pathogen’s Perspective......Page 377
CHAPTER 18: Genetics of Cancer......Page 381
18.1 Cancer Is Genetic, But Usually NotInherited......Page 382
18.2 Characteristics of Cancer Cells......Page 384
18.3 Origins of Cancer Cells......Page 387
18.4 Cancer Genes and MicroRNAs......Page 389
18.5 Many Genes Contribute to Cancer......Page 395
18.6 Environmental Causes of Cancer......Page 397
18.7 The Personalization of Cancer Diagnosis and Treatment......Page 399
CHAPTER 19: Genetic Technologies: Amplifying, Modifying,and Monitoring DNA......Page 404
19.1 Patenting DNA......Page 405
19.2 Amplifying DNA......Page 406
19.3 Modifying DNA......Page 408
19.4 Monitoring Gene Function......Page 414
19.5 Silencing DNA......Page 416
CHAPTER 20: Genetic Testing and Treatment......Page 421
20.2 Genetic Counseling......Page 422
20.3 Genetic Testing......Page 425
20.4 Treating Genetic Disease......Page 428
CHAPTER 21: Reproductive Technologies......Page 440
21.2 Infertility and Subfertility......Page 441
21.3 Assisted Reproductive Technologies......Page 444
21.4 Extra Embryos......Page 450
CHAPTER 22: Genomics......Page 456
22.1 From Genetics to Genomics......Page 457
22.2 DNA Sequencing and Genome Synthesis......Page 462
22.3 Ways of Looking at Genomes......Page 465
22.4 Personal Genome Sequencing......Page 469
Glossary......Page 473
Credits......Page 479
Index......Page 481