Human Genetics: Concepts and Applications

by Lewis, Ricki

• ISBN13: 9780072318982
• ISBN10: 0072318988
• Edition: 4th
• Format: Hardcover
• Copyright: 2000-04-01
• Publisher: McGraw Hill College Div

Summary

"Human Genetics, Seventh Edition," is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics..

Table of Contents

About the Author	p. iv
List of Boxes	p. vi
Preface	p. xiii
Introduction	p. 1
Overview of Genetics	p. 1
A Look Ahead	p. 2
The Language of Genetics	p. 5
Levels of Genetics: From DNA to Populations	p. 5
A Case Study: Inherited Sensitivity to Benzene Exposure	p. 7
Genes Do Not Usually Function Alone	p. 7
Geneticists Use Statistics to Represent Risks	p. 8
Applications of Genetics	p. 9
Establishing Identity--From Forensics to Rewriting History	p. 9
Health Care--Genetic Diseases Differ from Other Diseases	p. 10
In Their Own Words: Living with Hemophilia	p. 11
Agriculture	p. 12
Bioethics: From Iceland to GATTACA	p. 13
Cells	p. 17
The Components of Cells	p. 18
Chemical Constituents of Cells	p. 18
Organelles	p. 19
Inherited Illnesses at the Chemical Level	p. 20
The Cell Membrane	p. 25
The Cytoskeleton	p. 26
Inherited Diseases Caused by Faulty Ion Channels	p. 27
Cell Division and Death	p. 29
The Cell Cycle	p. 29
Apoptosis	p. 32
Cell-Cell Interactions	p. 34
Signal Transduction	p. 34
Cell Adhesion	p. 34
Stem Cells and Cell Specialization	p. 35
Viruses and Prions--Not Cells, But Infectious	p. 36
A Prion--One Protein that Takes Two Forms	p. 37
Development	p. 41
The Reproductive System	p. 42
The Male	p. 42
The Female	p. 42
Meiosis	p. 44
Gamete Maturation	p. 49
Sperm Development	p. 49
Oocyte Development	p. 51
Prenatal Development	p. 52
Fertilization	p. 52
Early Events--Cleavage and Implantation	p. 52
The Embryo Forms	p. 54
Supportive Structures	p. 54
On the Matter of Multiples	p. 54
The Embryo Develops	p. 55
The Fetus	p. 56
Birth Defects	p. 58
The Critical Period	p. 58
Teratogens	p. 59
Maturation and Aging	p. 60
Adult-Onset Inherited Disorders	p. 61
Accelerated Aging Disorders	p. 61
Is Longevity Inherited?	p. 61
Bioethics: Considering Cloning	p. 62
Transmission Genetics	p. 67
Mendelian Inheritance	p. 67
Following the Inheritance of One Gene--Segregation	p. 68
Mendel's Laws Apply to Humans, Too	p. 68
Mendel's Experiments	p. 69
Chromosome Behavior in Meiosis Explains Mendel's Law of Segregation	p. 69
Representing Mendel's Law of Segregation	p. 70
Mendelian Inheritance in Humans	p. 72
Modes of Inheritance	p. 72
It's All in the Genes	p. 74
On the Meaning of Dominance and Recessiveness	p. 75
Following the Inheritance of Two Genes--Independent Assortment	p. 76
Pedigree Analysis	p. 78
Pedigrees Then and Now	p. 78
Pedigrees Display Mendel's Laws	p. 79
Extensions and Exceptions to Mendel's Laws	p. 85
When Gene Expression Appears to Alter Mendelian Ratios	p. 86
Lethal Allele Combinations	p. 86
Multiple Alleles	p. 86
Different Dominance Relationships	p. 88
Epistasis--When One Gene Affects Expression of Another	p. 89
Penetrance and Expressivity	p. 90
Pleiotropy--One Gene, Many Effects	p. 91
Phenocopies--When It's Not in the Genes	p. 91
Genetic Heterogeneity--More than One Way to Inherit a Trait	p. 92
Maternal Inheritance and Mitochondrial Genes	p. 93
Mitochondrial Disorders	p. 93
Heteroplasmy Complicates Mitochondrial Inheritance	p. 94
Linkage	p. 95
Linkage was Discovered in Pea Plants	p. 95
Linkage Maps	p. 96
Examples of Linked Genes in Humans	p. 97
The Evolution of Gene Mapping	p. 98
Matters of Sex	p. 103
Sexual Development	p. 104
Sex Chromosomes	p. 104
The Phenotype Forms	p. 105
Gender Identity--Is Homosexuality Inherited?	p. 106
Traits Inherited on Sex Chromosomes	p. 108
X-Linked Recessive Inheritance	p. 108
Of Preserved Eyeballs and Duplicated Genes--Color Blindness	p. 110
X-Linked Dominant Inheritance	p. 113
X Inactivation Evens Out the Sexes	p. 114
Gender Effects on Phenotype	p. 116
Sex-limited Traits	p. 116
Sex-influenced Traits	p. 116
Genomic Imprinting	p. 116
Multifactorial and Behavioral Traits	p. 123
Genes and the Environment Mold Many Traits	p. 124
Polygenic Traits Are Continuously Varying	p. 124
Fingerprint Patterns, Height, and Eye Color	p. 124
A Closer Look at Skin Color	p. 126
Methods Used to Investigate Multifactorial Traits	p. 127
Empiric Risk	p. 127
Heritability--The Genetic Contribution to a Multifactorial Trait	p. 128
Adopted Individuals	p. 129
Twins	p. 129
Some Multifactorial Traits	p. 131
Heart Health	p. 131
Body Weight	p. 133
Intelligence	p. 135
Sleep	p. 136
Schizophrenia	p. 136
Alcoholism	p. 138
Searching for Genes that Affect Behavior	p. 138
Bioethics: Blaming Genes	p. 139
DNA and Chromosomes	p. 143
DNA Structure and Replication	p. 143
Experiments Identify and Describe the Genetic Material	p. 144
DNA Is the Hereditary Molecule	p. 144
DNA Is the Hereditary Molecule--And Protein Is Not	p. 144
Deciphering the Structure of DNA	p. 145
DNA Structure	p. 147
DNA Replication--Maintaining Genetic Information	p. 151
Replication is Semiconservative	p. 151
Steps and Participants in DNA Republication	p. 152
PCR--Directing DNA Replication	p. 154
DNA Makes History	p. 156
DNA Repair	p. 157
Three Types of DNA Repair	p. 157
DNA Repair Disorders	p. 158
Gene Action	p. 163
Control of Transcription Is Complex	p. 164
Transcription--The Link Between Gene and Protein	p. 164
RNA Structure	p. 164
The Events of Transcription	p. 166
Processing RNA	p. 168
Translation--Expressing Genetic Information	p. 169
RNA--Possibly the Most Important Molecule in Life	p. 170
Deciphering the Genetic Code	p. 172
Building a Protein	p. 174
Protein Folding	p. 176
Gene Mutation	p. 181
Mutations Can Alter Proteins--Three Examples	p. 182
The Beta Globin Gene	p. 182
Disorders of Orderly Collagen	p. 184
A Mutation that Causes Early-Onset Alzheimer Disease	p. 185
Causes of Mutation	p. 186
Spontaneous Mutation	p. 186
Induced Mutations	p. 188
Natural Exposure to Mutagens	p. 189
Types of Mutations	p. 190
Point Mutations	p. 190
Deletions and Insertions Can Cause Frameshifts	p. 191
Pseudogenes Are Remnants of Genes Past	p. 192
Movable Genes	p. 192
Triplet Repeats and Expanding Genes	p. 192
Fragile X Syndrome--The First of the Triplet Repeat Disorders	p. 194
The Importance of a Mutation's Position in the Gene	p. 196
Globin Variants	p. 196
Inherited Susceptibility to Prion Disorders	p. 196
Factors that Lessen the Effects of Mutation	p. 197
Chromosomes	p. 201
Portrait of a Chromosome	p. 202
Visualizing Chromosomes	p. 203
Obtaining Cells for Chromosome Study	p. 203
Preparing Cells for Chromosome Observation	p. 206
Abnormal Chromosome Number	p. 209
Polyploidy	p. 209
Aneuploidy	p. 209
HACs--Human Artificial Chromosomes	p. 210
Abnormal Chromosome Structure	p. 215
In Their Own Words: A Personal Look at Klinefelter Syndrome	p. 215
Deletions and Duplications	p. 216
Translocations	p. 217
In Their Own Words: Ashley's Message of Hope	p. 217
Inversions	p. 219
Isochromosomes and Ring Chromosomes	p. 220
Uniparental Disomy--Two Genetic Contributions from One Parent	p. 221
Population Genetics	p. 227
When Allele Frequencies Stay Constant	p. 227
The Importance of Knowing Allele Frequencies	p. 228
When Allele Frequencies Stay Constant--Hardy-Weinberg Equilibrium	p. 228
Practical Applications of Hardy-Weinberg Equilibrium	p. 231
DNA Fingerprinting--A Practical Test of Hardy-Weinberg Assumptions	p. 232
DNA Patterns Distinguish Individuals	p. 232
DNA Fingerprinting Relies on Molecular Genetics and Population Genetics	p. 234
Population Statistics Are Used to Interpret DNA Fingerprints	p. 236
Changing Allele Frequencies	p. 241
Nonrandom Mating	p. 242
Migration	p. 243
Historical Clues	p. 243
Geographical and Linguistic Clues	p. 244
Genetic Drift	p. 244
The Founder Effect	p. 244
Population Bottlenecks	p. 246
Mutation	p. 247
Natural Selection	p. 248
Antibiotic Resistance--Stemming a Biological Arms Race	p. 248
Tuberculosis Ups and Downs--and Ups	p. 249
Evolving HIV	p. 250
Balanced Polymorphism	p. 250
Dogs and Cats: Products of Artificial Selection	p. 255
Gene Genealogy	p. 256
PKU Revisited	p. 256
CF Revisited	p. 257
Human Origins and Evolution	p. 261
Human Origins	p. 262
The Australopithecines	p. 263
Homo	p. 264
Modern Humans	p. 265
Molecular Evolution	p. 266
Comparing Genomes	p. 266
Comparing Chromosomes	p. 266
Comparing Protein Sequences	p. 266
Comparing DNA Sequences	p. 268
Molecular Clocks	p. 270
Neanderthals Revisited	p. 270
Choosing Clues	p. 271
Eugenics	p. 274
Eugenics Early in the Twentieth Century	p. 274
Eugenics in the 1990s	p. 275
Two Views of Neural Tube Defects	p. 276
Bioethics: Beryllium Sensitivity Screening	p. 277
Immunity and Cancer	p. 281
Genetics of Immunity	p. 281
The Importance of Cell Surfaces	p. 282
Blood Groups	p. 282
The Human Leukocyte Antigens	p. 284
The Immune System	p. 285
Physical Barriers and the Innate Immune Response	p. 285
The Acquired Immune Response	p. 287
Abnormal Immunity	p. 292
Inherited Immune Deficiencies	p. 292
Acquired Immune Deficiency Syndrome	p. 292
Autoimmunity	p. 294
Allergies	p. 294
Altering Immune Function	p. 295
Vaccines	p. 295
Immunotherapy	p. 297
Transplantation	p. 297
Bioethics: Pig Parts	p. 300
The Genetics of Cancer	p. 305
Cancer as a Genetic Disorder	p. 306
Cancer--A Loss of Cell Cycle Control	p. 307
Inherited versus Sporadic Cancer	p. 308
Characteristics of Cancer Cells	p. 308
Genes that Cause Cancer	p. 310
Oncogenes	p. 311
Tumor Suppressors	p. 313
Retinoblastoma--The Two-Hit Hypothesis	p. 314
A Series of Genetic Changes Causes Some Cancers	p. 317
A Rapidly Growing Brain Tumor	p. 317
Colon Cancer	p. 318
Cancer Prevention and Treatment	p. 319
Diet-Cancer Associations	p. 319
Treating Cancer	p. 320
Cancer Death Rates in Different U.S. Locales	p. 320
Genetic Technology	p. 325
Genetic Engineering	p. 325
Recombinant DNA Technology	p. 326
Constructing Recombinant DNA Molecules	p. 327
Selecting Recombinant DNA Molecules	p. 329
Isolating the Gene of Interest	p. 330
Applications of Recombinant DNA Technology	p. 331
Transgenic Organisms	p. 332
Delivering DNA	p. 332
Transgenic Pharming from Milk and Semen	p. 333
Gene Targeting	p. 336
Gene-Targeted Mice as Models	p. 337
Bioethics: The Ethics of Using a Recombinant Drug: EPO	p. 338
When Knockouts Are Normal	p. 339
Gene Therapy and Genetic Counseling	p. 343
Gene Therapy Successes and Setbacks	p. 344
Adenosine Deaminase Deficiency--Early Success	p. 344
Ornithine Transcarbamylase Deficiency--A Setback	p. 345
The Mechanics of Gene Therapy	p. 346
Treating the Phenotype	p. 346
Germline Versus Somatic Gene Therapy	p. 347
Sites of Somatic Gene Therapy	p. 347
In Their Own Words: The Good News Genetic Disease: Hereditary Hemochromatosis	p. 349
Gene Delivery	p. 350
A Closer Look: Treating Sickle Cell Disease	p. 352
Genetic Screening and Genetic Counseling	p. 354
Genetic Counselors Provide Diverse Services	p. 354
Scene from a Sickle Cell Disease Clinic	p. 355
Genetic Counseling Quandaries and Challenges	p. 356
Perspective: A Slow Start, But Great Promise	p. 356
Bioethics: Gene Therapy Fatalities	p. 357
Agricultural Biotechnology	p. 361
Traditional Breeding Compared to Biotechnology	p. 363
Similar Steps, Different Degree of Precision	p. 363
Government Regulation of Crops	p. 363
Biotechnology Provides Different Routes to Solving a Problem	p. 363
Types of Plant Manipulations	p. 365
Altering Plants at the Gene Level	p. 365
Altering Plants at the Cellular Level	p. 368
Release of Genetically Modified Organisms to the Environment	p. 369
Microcosm Experiments	p. 369
Field Tests	p. 370
Bioremediation	p. 370
Economic, Ecological, and Evolutionary Concerns	p. 371
Bioethics: The Butterfly that Roared	p. 373
Reproductive Technologies	p. 377
New Ways to Make Babies	p. 378
Grandmother and Mother at the Same Time	p. 378
Midlife Motherhood	p. 378
A Five-Year Wait	p. 378
Infertility	p. 379
Male Infertility	p. 379
Female Infertility	p. 380
Scrutinizing Sperm	p. 380
Infertility Tests	p. 383
Assisted Reproductive Technologies	p. 384
Donated Sperm--Artificial Insemination	p. 384
A Donated Uterus--Surrogate Motherhood	p. 384
In Vitro Fertilization	p. 386
Gamete Intrafallopian Transfer	p. 387
Oocyte Banking and Donation	p. 387
Preimplantation Genetic Screening	p. 388
Bioethics: Technology Too Soon? The Case of ICSI	p. 390
Genomics	p. 393
Technology Fuels Genome Sequencing and Genomics	p. 394
The Needle-in-a-Haystack Search for the Huntington Disease Gene	p. 396
The Sanger Method of DNA Sequencing	p. 398
Computers Coax Meaning from Genes	p. 399
The History of the Human Genome Project	p. 400
Using Human Genome Information	p. 402
DNA Microarrays Will Revolutionize Medicine	p. 402
Pharmacogenomics	p. 402
Genome Information Answers and Raises Questions	p. 403
The Definition of a Gene	p. 403
Nonhuman Genome Projects	p. 404
Epilogue: Genome Information Will Affect You	p. 405
In Their Own Words: Genomics: The New Paradigm	p. 406
Answers	p. 1
Glossary	p. 1
Credits	p. 1
Index	p. 1
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