Genetics:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | Undetermined |
| Veröffentlicht: |
New York u.a.
Harper & Row
1990
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| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | X, 806 S. Ill., graph. Darst. |
| ISBN: | 0060420057 |
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MARC
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| 245 | 1 | 0 | |a Genetics |c M. W. Farnsworth |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a New York u.a. |b Harper & Row |c 1990 | |
| 300 | |a X, 806 S. |b Ill., graph. Darst. | ||
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Datensatz im Suchindex
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| adam_text | IMAGE 1
PREFACE XIII
CONTENTS
PART ONE BASIC CONCEPTS
1. PERSPECTIVES 3
SCIENCE AND SCIENTISTS 4 A BRIEF HISTORY 5 MENDEL 6; FURTHER HISTORY OF
TRANSMISSION GENETICS AND CYTOGENETICS 7; MOLECULAR AND BIOCHEMICAL
GENETICS 7;
POPULATION GENETICS 9; THE NATURE-NURTURE CONCEPT: QUANTITATIVE GENETICS
10
HUMAN GENETIC LITERATURE 10
2. RULES OF INHERITANCE FOR SINGLE GENES 12 AUTOSOMAL GENES: MENDEL S
FIRST LAW 12 MENDEL S EXPERIMENTS 13; MENDEL S FIRST LAW 14;
MODERN NOMENCLATURE 15; A CHECKERBOARD METHOD FOR PREDICTING OFFSPRING
15; PROGENY TESTING AND MATINGS 16; AN EXAMPLE FROM HUMANS 17
X-LINKED GENES 17 SEX DETERMINATION 18; GENES ON SEX CHROMOSOMES 18;
COLOR BLINDNESS 18; HEMOPHILIA 20; X-LINKED LETHAL GENES AND SHIFTS IN
SEX RATIO 21
Y-LINKED GENES 22 MITOCHONDRIAL GENES 22
3. PEDIGREES 26
DATA GATHERING 27 PEDIGREE CONSTRUCTION 28 PEDIGREE AND BIOCHEMICAL
ANALYSES 29; SOME CAVEATS 30
AUTOSOMAL DOMINANT INHERITANCE: BRACHYDACTYLY 30
AUTOSOMAL RECESSIVE INHERITANCE: CYSTIC FIBROSIS 32 CLINICAL FEATURES
AND TREATMENT 33; PEDIGREES 33; BIOCHEMISTRY AND MOLECULAR GENETICS 35;
DETECTION OF CARRIERS AND HOMOZYGOTES 35
X-LINKED RECESSIVE INHERITANCE: DUCHENNE AND BECKER MUSCULAR DYSTROPHIES
36 CLINICAL FEATURES 36; PEDIGREES 37; BIOCHEMISTRY AND MOLECULAR
GENETICS 38; DYSTROPHIN 39; DETECTION OF
CARRIERS AND HEMIZYGOTES 39
4. CHROMOSOMES 43
CHROMOSOMES, GENES, AND DNA 43 GROSS STRUCTURE OF CHROMOSOMES 44; THE
COMPONENTS OF GENES AND CHROMOSOMES 45; FINE STRUCTURE OF CHROMOSOMES 46
HUMAN CHROMOSOMES 49 METHODS OF CHROMOSOME PREPARATION AND ANALYSIS 50;
THE NORMAL HUMAN KARYOTYPE 54
5. GAMETES AND CELL DIVISION 60
GAMETES AND FERTILIZATION 60 THE MATURE EGG AND ITS CELL STRUCTURES 60;
THE MATURE SPERM AND FERTILIZATION 63
THE CELL CYCLE AND MITOSIS 66 INTERPHASE 66; MITOSIS 68
MEIOSIS AND GAMETOGENESIS 71 MEIOSIS I 71; MEIOSIS II 74
CELL CYCLE MUTANTS 76
VII
IMAGE 2
VIII CONTENTS
6. GENETICS OF DEVELOPMENT 81
EMBRYONIC DEVELOPMENT 81 GENETICS OF EMBRYONIC DEVELOPMENT 83 MATERNAL
EFFECTS 84; SEGMENTATION AND PATTERN FORMATION 85; THE NEED FOR BOTH
MATERNAL AND PATERNAL
GENOMES IN MAMMALS 88; FUTURE PROSPECTS 90
USUAL SEXUAL DEVELOPMENT 90 PRENATAL DEVELOPMENT: GENETIC AND HORMONAL
FACTORS 91; POSTNATAL DEVELOPMENT: ENVIRONMENTAL FACTORS 93; POSTNATAL
DEVELOPMENT: PHYSIOLOGICAL FACTORS 93
SOME ERRORS IN SEXUAL DEVELOPMENT 94 TRUE HERMAPHRODITES 94;
PSEUDOHERMAPHRODITES 96; GENDER IDENTITY 99
PART TWO CYTOGENETICS
7. NONDISJUNCTION 107
MISTAKES IN CELL DIVISION 108 NONDISJUNCTION AND THE CHROMOSOME THEORY
108; MEIOTIC NONDISJUNCTION 109; MITOTIC NONDISJUNCTION 110
NONDISJUNCTION OF HUMAN AUTOSOMES: SPORADIC DOWN SYNDROME 112 GENERAL
FEATURES 112; POSSIBLE RELATION TO ALZHEIMER DISEASE 113; FREQUENCY OF
DOWN SYNDROME 114;
CHROMOSOMAL-GENETIC BASIS FOR DOWN SYNDROME 115; SEARCH FOR FACTORS
ALTERING NONDIJUNCTION RATES 116; DOWN SYNDROME MOSAICS 118
OTHER AUTOSOMAL ANEUPLOIDS 118 TRISOMY 18 AND TRISOMY 13 118; VERY RARE
AUTOSOMAL ANEUPLOIDS 118
8. SEX CHROMOSOMES AND THEIR ABNORMALITIES 123
Y CHROMOSOME PRESENT 124 KLINEFELTER SYNDROME: 47,XXY MALES 124; THE
47,XYY KARYOTYPE 126
Y CHROMOSOME ABSENT 128 TURNER SYNDROME: 45,X FEMALES 128; 47,XXX AND
48.XXXX FEMALES 129; OTHER POLY-X KARYOTYPES 130
SEX CHROMATIN AND THE LYON HYPOTHESIS 130 DETECTION OF SEX CHROMATIN IN
HUMANS 131; THE INACTIVE-X HYPOTHESIS 131; X CHROMOSOME INACTIVATION AND
REACTIVATION 132
STRUCTURE OF THE MAMMALIAN X AND Y CHROMOSOMES 135 THE PSEUDOAUTOSOMAL
REGION OF THE X AND Y CHROMOSOMES 135; XX MALES, XY FEMALES, AND THE
TESTIS
DETERMINING FACTOR 135
THE FRAGILE X SYNDROME 136 FRAGILE X SYNDROME IN MALES AND FEMALES 137;
GENETICS OF THE FRAGILE X SYNDROME 138
9. OTHER CHROMOSOMAL ABNORMALITIES 143
DELETIONS AND DUPLICATIONS 144 ORIGINS AND EXAMPLES OF DELETIONS 144;
ORIGINS AND EXAMPLES OF DUPLICATIONS 147
TRANSLOCATIONS 147 ORIGINS OF TRANSLOCATIONS 147; TRANSLOCATIONS IN
MEIOSIS 148; TRANSLOCATION DOWN SYNDROME 150;
OTHER TRANSLOCATIONS 151
INVERSIONS 151 BEHAVIOR OF INVERSIONS DURING MEIOSIS 152 INVERSIONS IN
HUMANS; 153
OTHER ABNORMALITIES 153 RING CHROMOSOMES 153; POLYPLOIDY 154
FREQUENCIES OF CHROMOSOMAL ABNORMALITIES 155 GAMETES 157; PRENATAL TESTS
158; ABORTIONS, STILLBIRTHS AND NEONATAL DEATHS 158; UNSELECTED NEWBORNS
AND SOME ADULT GROUPS 159; CONCLUSIONS ON FETAL WASTAGE 160
CHROMOSOMAL ABNORMALITIES AND GENE MAPPING 160 VARIANT CHROMOSOMES AND
INVERSIONS 160; DELETIONS, DUPLICATIONS, AND TRANSLOCATIONS 161
IMAGE 3
CONTENTS IX
PART THREE GENE TRANSMISSION
10. ALLELIC SEGREGATION AND PROBABILITY 169 MULTIPLE ALLELES 169 ORIGIN
OF MULTIPLE ALLELIC SERIES 169; COMBINING ALLELES
INTO GENOTYPES 170
THE PHENOTYPE OF A HETEROZYGOTE 170 LEVELS OF OBSERVATION 171
THE RULES OF PROBABILITY 172 DEFINITION 173; FIVE RULES FOR COMBINING
PROBABILITIES 173
PROBLEM SOLVING THE BINOMIAL 179; 179 CONDITIONAL PROBABILITY 180
11. RECOMBINATION OF NONALLELIC GENES 183 THE CONCEPT OF RECOMBINATION
183 GENES ON DIFFERENT CHROMOSOMES: MENDEL S SECOND LAW 184
THE PROPORTIONS OF THE GAMETES 185; OFFSPRING TYPES FOR TWO GENES 185;
GENE X GENE METHOD 186; MEIOSIS AND THE SECOND LAW 187
GENES ON THE SAME CHROMOSOME: CROSSING OVER 187
THE PROPORTIONS OF THE GAMETES 189; THE PHYSICAL BASIS OF RECOMBINATION
189; THE LIMITS OF RECOMBINATION 192; THE PHASE PROBLEM 193
MAPPING THE HUMAN X CHROMOSOME BY FAMILY LINKAGE STUDIES 194 GREEN-SHIFT
AND RED-SHIFT 194; TWO CLUSTERS OF X-LINKED GENES 194; FURTHER
CONSIDERATIONS 195
SIGNIFICANCE OF GENE MAPPING 197 BUILDING AND USING GENE MAPS 197; GENE
MAPPING AND EVOLUTION 199
12. COMPLICATING FACTORS 204
VARIATION IN GENE EXPRESSION 204 SEX DIFFERENCES 204; VARIABLE
EXPRESSIVITY 206; INCOMPLETE PENETRANCE 209; ONE GENE WITH SEVERAL
EFFECTS 210; ONE PHENOTYPE FROM DIFFERENT CAUSES 210
ASCERTAINMENT BIAS 212 THE ALWAYS-MISSING FAMILIES 212; THE
SOMETIMES-MISSING FAMILIES 215
TESTING HYPOTHESES 215 THE CHI-SQUARE METHOD 216; INTERPRETATION 216;
COMMENTS 217
IS THE TRAIT GENETIC? 218 KURU 218
PART FOUR GENES, METABOLISM, AND DISEASE
13- GENE STRUCTURE AND FUNCTION 225
DNA STRUCTURE 225 BASE COMPLEMENTARITY 227
REPLICATION: DNA - DNA 227 BUBBLES AND FORKS 228
TRANSCRIPTION: DNA - RNA 230 TYPES OF RNA 232
PROTEIN SYNTHESIS: RNA - PROTEIN 233 AMINO ACIDS 234; TRANSLATION 235
GENE ORGANIZATION IN CHROMOSOMES 237 INTERRUPTED GENES AND MRNA
PROCESSING 237; GENE CLUSTERS AND PSEUDOGENES 239; REPETITIVE DNA 241;
TRANSPOSABLE ELEMENTS 242
MITOCHONDRIAL GENES 243
IMAGE 4
X CONTENTS
14. GENETIC INFORMATION AND MISINFORMATION 247 THE TRIPLET CODE 247
DECIPHERING SPECIFIC CODONS 249; PROPERTIES OF THE
CODE 249
MUTATIONS 251 TYPES OF BASE SUBSTITUTIONS 251; SPONTANEOUS AND INDUCED
MUTATIONS 252
HEMOGLOBIN MUTATIONS 253 SICKLE-CELL ANEMIA 254; OTHER AMINO ACID
SUBSTITUTIONS 255; THALASSEMIAS 255
CHEMICAL MUTAGENESIS 258 SCREENING SYSTEMS 258; THE AMES TEST 259;
SISTER CHROMATID EXCHANGE 259
RADIATION MUTAGENESIS 261 HUMAN RADIATION EXPOSURES 262; EVALUATION OF
RADIATION EFFECTS 264
15. NEW GENETIC TECHNOLOGIES
RECOMBINANT DNA 270 269
MAKING RECOMBINANT DNA 270; MANUFACTURING PROTEINS 272; PUBLIC CONCERNS
275
DNA MANIPULATIONS 276 ELECTROPHORESIS AND RESTRICTION MAPS 276;
SEQUENCING 277; MAKING A GENE LIBRARY 281; SCREENING A GENE LIBRARY 283;
SOUTHERN BLOTTING AND THE MOLECULAR
BIOLOGY OF COLOR VISION 284; RESTRICTION FRAGMENT LENGTH POLYMORPHISM
(RFLP) 286; HUNTINGTON DISEASE AND SICKLE-CELL ANEMIA 287; DNA
FINGERPRINTING AND THE POLYMERASE CHAIN REACTION 289
SOMATIC CELL GENETICS 292 SELECTING AND ISOLATING HYBRID CELLS 292;
CHROMOSOME ASSIGNMENT BY A GENE S PROTEIN PRODUCT 294; METHODS FOR
REGIONAL ASSIGNMENTS 295
A FURTHER NOTE ON MAPPING 298
16. INBORN ERRORS OF METABOLISM 303
AMINO ACID METABOLISM 305 PHENYLKETONURIA AND OTHER
HYPERPHENYLALANINEMIAS 306; ALBINISM 311
LIPID AND LIPOPROTEIN METABOLISM TAY-SACHS DISEASE 314; FAMILIAL
HYPERCHOLESTEROLEMIA 317
PURINE METABOLISM 321 LESCH-NYHAN SYNDROME 322
314
MEDICAL CONSIDERATIONS 325 DETECTION OF METABOLIC DISEASE IN NEWBORNS
325; PHARMACOGENETICS 325
17. GENETICS OF BLOOD GROUPS 332
BLOOD GROUPING 332 RED BLOOD CELLS 333; POLYMORPHISMS 334; TECHNIQUES
335; HOW SOME SYSTEMS WERE DISCOVERED 337
THE ABO BLOOD GROUP SYSTEM 340 TRANSFUSIONS 341; BIOSYNTHESIS OF THE
ANTIGENS 342; THE CURIOUS CASE OF THE BOMBAY BLOODS 344
RH AND THE PREVENTION OF HEMOLYTIC DISEASE 345 RH GENES, ANTIGENS, AND
ANTIBODIES 345; INCOMPATIBILITY 346; PROTECTION AGAINST RH-CAUSED
HEMOLYTIC DISEASE 347
18. GENETICS OF IMMUNITY 352
THE IMMUNE RESPONSE 353 MAIN COMPONENTS OF THE SYSTEM 353; THE B CELL
RESPONSE 354; THE T CELL RESPONSE 357
ANTIBODY STRUCTURE AND GENETICS 358 ANTIBODY STRUCTURES 358; ANTIBODY
DIVERSITY 359; MONOCLONAL ANTIBODIES 363
TRANSPLANTATION ANTIGENS 365 TISSUE TYPING: THE HLA SYSTEM 365; ANTIGENS
AND ALLELES OF THE BCA LOCI 367; TRANSPLANTATION 368
THE IMMUNE SYSTEM AND DISEASE 371 ASSOCIATIONS WITH HLA 371; ALLERGIES
373; AUTOIMMUNE DISORDERS 373; IMMUNE DEFICIENCY DISORDERS 374
19. GENETICS OF CANCER 378
CANCEROUS CELLS 379 ONCOGENES AND PROTO-ONCOGENES 380 ONCOGENES CARRIED
BY RETROVIRUSES 381; FINDING HUMAN ONCOGENES BY GENE TRANSFER 382; THE
PROTEINS OF
ONCOGENES 384; TRANGENIC MOUSE MODELS 386
CANCER AND CYTOGENETICS 386 PROTO-ONCOGENES AT TRANSLOCATION BREAKPOINTS
387; OTHER SPECIFIC CHROMOSOMAL ABNORMALITIES 390
CANCER AND MENDELIAN INHERITANCE 392 DOMINANTS: RETINOBLASTOMA AND WILMS
TUMOR 392; RECESSIVES: CHROMOSOME BREAKAGE SYNDROMES 394
GENETIC AND ENVIRONMENTAL FACTORS 398
IMAGE 5
CONTENTS XI
PART FIVE POPULATION AND QUANTITATIVE GENETICS
20. POPULATION CONCEPTS 405 GENOTYPE, PHENOTYPE, AND ALLELE FREQUENCIES
405 RELATION BETWEEN ALLELE AND GENOTYPE FREQUENCIES 406
MATING FREQUENCIES 406 RANDOM MATING 407; OFFSPRING FROM RANDOM MATING
407
THE HARDY-WEINBERG LAW 408 A PROOF 408; THE MEANING OF THE
HARDY-WEINBERG LAW 409; THE ARRAY OF GENOTYPE FREQUENCIES 410; ANOTHER
PROOF OF THE HARDY-WEINBERG LAW 410
SOME APPLICATIONS 412 THE SICKLE-CELL ALLELE AMONG AMERICAN BLACKS 412;
ALKAPTONURIA AND THE PROBLEM OF DOMINANCE 412; ABO: A THREE-ALLELE
SYSTEM 413; X-LINKED GENES 413
21. INBREEDING AND ISOLATES 417
RELATIVES AND THEIR OFFSPRING 417 COUSINS 417; INBREEDING 419
MEASURING INBREEDING FROM PEDIGREES 421 ALLELES IDENTICAL BY DESCENT
421; CALCULATING THE COEFFICIENT OF INBREEDING 422; MORE COMPLEX
PEDIGREES 423
THE EFFECTS OF INBREEDING 424 INCREASE IN SPECIFIC RECESSIVE TRAITS 425;
HEALTH AND MORTALITY DATA 426; THE PROGNOSIS FOR A FIRST COUSIN MARRIAGE
427
ISOLATES 428
RECESSIVE DISEASE IN THE OLD ORDER AMISH 428; INBREEDING IN THE
HUTTERITES 429
22. PROCESSES OF EVOLUTION
MUTATION 436
435
MEASURING SPONTANEOUS MUTATION RATES 437; THE AVERAGE MUTATION RATE FOR
HUMAN GENES 439
SELECTION 441
SELECTION AGAINST A RECESSIVE LETHAL PHENOTYPE 442; SELECTION AGAINST
BOTH HOMO2YGOTES 444
MIGRATION AND DRIFT 446 MIGRATION AND GENE FLOW 447; RANDOM GENETIC
DRIFT 448
DIFFERING VIEWS ON THE MECHANISMS OF EVOLUTION 449 THE ROLE OF DRIFT
449; THE NATURE OF VARIABILITY 450
A GENETIC CONCEPT OF RACE 451 THE REALITY BUT ARBITRARINESS OF RACES
451; HUMAN VARIABILITY 452 INDIVIDUALITY; 454
23. QUANTITATIVE AND BEHAVIORAL TRAITS 458 459 GENETIC AND ENVIRONMENTAL
VARIATION HERITABILITY 460
THE GENETIC COMPONENT 461 AN ADDITIVE MODEL 462; SKIN COLOR 464
TWINS: THEIR USEFULNESS AND LIMITATIONS THE BIOLOGY OF TWINNING 465;
TWINS IN GENETIC RESEARCH 467
465
BEHAVIORAL TRAITS 468 A GENETIC COMPONENT TO HUMAN BEHAVIOR 469;
INTELLIGENCE 471; ALCOHOLISM 474
IMAGE 6
XII CONTENTS
PART SIX APPLICATIONS OF GENETIC TECHNIQUES
24. BEGINNINGS OF LIFE 481
NEGATIVE EUGENICS 482 INVOLUNTARY STERILIZATION 483; VOLUNTARY
STERILIZATION 483
484 ARTIFICIAL INSEMINATION 484
POSITIVE EUGENICS GERMINAL CHOICE 484;
OTHER REPRODUCTIVE TECHNOLOGIES 486 IN VITRO FERTILIZATION AND EMBRYO
TRANSFER 486; VARIATIONS ON A THEME 487; ETHICAL AND LEGAL ISSUES 488;
REPRODUCTIVE TECHNOLOGIES IN FARM ANIMALS; 490
SEX SELECTION 491 AVAILABLE TECHNIQUES (POSTCONCEPTION) 493;
CONTEMPLATED TECHNIQUES (PRECONCEPTION) 493
25. GENETIC PRACTICES AND PROSPECTS 498
GENETIC COUNSELING 499 THE PROCEDURE 499; ETHICAL CONCERNS 501
PRENATAL DIAGNOSIS 502 PROCEDURES FOR OBTAINING FETAL CELLS 502;
INDICATIONS AND RESULTS 503; SEX PREDICTION 507
GENETIC SCREENING 508 SCREENING FOR EARLY DETECTION OF GENETIC DISEASE
509; SCREENING FOR HETEROZYGOTES 511
TREATMENTS FOR GENETIC DISEASE 512 CURRENT PRACTICES 513; GENE THERAPY
516
SOME THOUGHTS ON SCIENCE AND SOCIETY 518 PUBLIC INFLUENCE ON SCIENCE
POLICY 518; THE LYSENKO EXPERIENCE 519; CONCLUSION 520
APPENDICES
1. SOME COMMON UNITS OF MEASUREMENT 525 2. SOME BASIC MATHEMATICS 526 3
SOME BASIC CHEMISTRY 530
4. THE HUMAN GENE MAP 536
BIBLIOGRAPHY 542 NAME INDEX 568 SUBJECT INDEX 574
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| illustrated | Illustrated |
| indexdate | 2024-07-09T17:14:43Z |
| institution | BVB |
| isbn | 0060420057 |
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| spelling | Farnsworth, Marjorie W. Verfasser aut Genetics M. W. Farnsworth 2. ed. New York u.a. Harper & Row 1990 X, 806 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Genetik (DE-588)4071711-2 gnd rswk-swf Genetik (DE-588)4071711-2 s DE-604 SWB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=005348487&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Farnsworth, Marjorie W. Genetics Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4071711-2 |
| title | Genetics |
| title_auth | Genetics |
| title_exact_search | Genetics |
| title_full | Genetics M. W. Farnsworth |
| title_fullStr | Genetics M. W. Farnsworth |
| title_full_unstemmed | Genetics M. W. Farnsworth |
| title_short | Genetics |
| title_sort | genetics |
| topic | Genetik (DE-588)4071711-2 gnd |
| topic_facet | Genetik |
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