Basic human genetics:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | German |
| Published: |
Sunderland, Mass.
Sinauer Assoc.
1999
|
| Edition: | 2. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIII, 530 S. Ill., graph. Darst. 1 CD-ROM (12 cm) |
| ISBN: | 0878934979 |
Staff View
MARC
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| 100 | 1 | |a Mange, Elaine Johansen |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Basic human genetics |c Elaine Johannsen Mange ; Arthur P. Mange |
| 250 | |a 2. ed. | ||
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Record in the Search Index
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|---|---|
| adam_text | IMAGE 1
CONTENTS
PREFACE XII ESSENTIAL IDEAS
CHAPTER 1 A FRAME FOR GENETICS 3 GENETICS AND SOCIAL ISSUES 3 SCIENCE
AND SCIENTISTS 4 GENETICS IN AGRICULTURE, MEDICINE, AND SOCIETY
10
USING THE LITERATURE 12
CHAPTER 2 CELLS AND CHROMOSOMES 15 CELL STRUCTURE 17 CHROMOSOMES 19 SEX
CHROMOSOMES 19
GROSS STRUCTURE OF CHROMOSOMES 80 SPECIAL FEATURES 20 THE CHEMICAL
COMPONENTS OF GENES AND CHROMOSOMES 21 FINE STRUCTURE OF CHROMOSOMES 22
HUMAN CHROMOSOMES 24
CHROMOSOME BANDING AND PAINTING 24 THE NORMAL HUMAN KARYOTYPE 26
ARTIFICIAL CHROMOSOMES 26
CHAPTER 3 CELL DIVISION 29
THE CELL CYCLE AND MITOSIS 30 INTERPHASE 30 MITOSIS 31 CELL CYCLE
MUTANTS 34 MEIOSIS AND GAMETOGENESIS 34
MEIOSIS I 36 MEIOSIS II 37 OVERVIEW OF MEIOSIS 38 MATURE GAMETES AND
FERTILIZATION 39
THE MATURE EGG 39 THE MATURE SPERM AND FERTILIZATION 39
CHAPTER 4 THE RULES OF INHERITANCE 45
MENDEL S FIRST LAW: SEGREGATION OF A PAIR OF ALLELES 47 MENDEL S
EXPERIMENTS 48 MENDEL S FIRST LAW 49
MODERN NOMENCLATURE 49 A CHECKERBOARD METHOD FOR PREDICTING OFFSPRING 50
PROGENY TESTING AND MA TINGS 51 MULTIPLE ALLELES 52
SOME PROBABILITY 53 DEFINITION 53 TWO RULES FOR COMBINING PROBABILITIES
54 MENDEL S SECOND LAW: INDEPENDENT ASSORTMENT
OF TWO PAIRS 55 THE PROPORTIONS OF THE GAMETES IN A DIHYBRID CROSS 55
OFFSPRING TYPES FOR TWO GENES 56 GENE X GENE METHOD 56 MENDEL S LAWS AND
MEIOSIS 57
SOME EXAMPLES IN HUMANS 58 SEX DETERMINATION AND SEX LINKAGE 59 SEX
DETERMINATION 59
SEX LINKAGE 60 X LINKAGE IN HUMANS 61 X-LINKED LETHAL ALLELES AND SHIFTS
IN SEX RATIO 63
IMAGE 2
VIII CONTENTS
CHAPTER 5 HUMAN PEDIGREES 67
PEDIGREE CONSTRUCTION 68 DATA COLLECTION 69 GENE FUNCTION 70 SOME
WARNINGS 71
AUTOSOMAL DOMINANT INHERITANCE 71 PEDIGREE ANALYSIS: FAMILIAL
HYPERCHOLESTEROLEMIA 73
METABOLIC AND GENETIC CONTROL OF CHOLESTEROL 73 AUTOSOMAL RECESSIVE
INHERITANCE 75 PEDIGREE ANALYSIS: CYSTIC FIBROSIS 78 CYSTIC FIBROSIS AND
GENETIC TESTING 79
HEREDITARY HEMOCHROMATOSIS: THE RUSTY ORGAN SYNDROME 80 X-LINKED
RECESSIVE INHERITANCE 81 PEDIGREE ANALYSIS: DUCHENNE MUSCULAR
DYSTROPHY 83 IDENTIFICATION OF THE DMD GENE AND PROTEIN 84 DETECTION OF
CARRIERS AND HEMIZYGOTES 84 OTHER MODES OF INHERITANCE 86
X-LINKED DOMINANT INHERITANCE: HYPOPHOSPHATEMIA 86 Y-LINKED GENES 87
MITOCHONDRIAL GENES 88
DNA
CHAPTER 8 DNA IN THE LABORATORY 143 THE POLYMERASE CHAIN REACTION 144
CLONING HUMAN DNA IN OTHER SPECIES 147 MANUFACTURING USEFUL PROTEINS 149
OTHER WAYS TO CLONE 151 PUBLIC CONCERNS 153 DNA SEQUENCING 154 DNA
FINGERPRINTING 156
HOW TO DO DNA FINGERPRINTING 158 PCR-BASED METHODS 161 COURT PROCEEDINGS
162
EXTENSIONS
CHAPTER 9 CHROMOSOME MAPPING AND THE HUMAN GENOME PROJECT 167 GENETIC
LINKAGE MAPS 168 DNA MARKER MAPS 171 PHYSICAL MAPS 175
CYTOLOGICAL STUDIES 175 ORDERED DNA SEGMENTS 178 BASE SEQUENCE DATA 180
FINDING DISEASE GENES 182 HOW DO YOU KNOW IT S A GENE? 183 MORE ON THE
HUMAN GENOME PROJECT 185
CHAPTER 6 DNA IN THE ORGANISM 95 CHAPTER 10 COMPLICATING FACTORS 191 THE
DOUBLE HELIX 96 COMPLEMENTARY BASES 98 REPLICATION 99
BUBBLES AND FORKS 99 GENE EXPRESSION: DNA - RNA - PROTEIN 100 TYPES OF
RNA 103 PROTEINS 104
TRANSLATION 105 THREE-LETTER WORDS 107 CRACKING THE CODE 107 PROPERTIES
OF THE CODE 108
GENE ORGANIZATION 109 EXONS AND INTRONS 109 GENE FAMILIES 111 REPETITIVE
DNA 112 MOBILE GENES 114
CHAPTER 7 THE NATURE OF MUTATIONS 119
KINDS OF MUTATIONS 120 SUBSTITUTIONS AND FRAMESHIFTS 121 UNSTABLE
TRINUCLEOTIDE REPEATS 124 CHANGES DUE TO UNEQUAL CROSSING OVER 128
INSERTIONS 131 AGENTS OF MUTATION 132
CHEMICAL MUTAGENESIS 133 RADIATION MUTAGENESIS 135 THWARTING MUTATIONS
137 ABNORMAL REPAIR SYNDROMES 137
IS THE TRAIT REALLY GENETIC? 192 VARIATIONS IN PHENOTYPIC EXPRESSION 193
SEX DIFFERENCES 193 VARIABLE EXPRESSIVITY 194
INCOMPLETE PENETRANCE 196 ONE GENE WITH SEVERAL EFFECTS 196 ONE
PHENOTYPE FROM DIFFERENT CAUSES 197 DIVERSITY FROM WITHIN AND BETWEEN
LOCI 199 COLLECTING AND INTERPRETING GENETIC DATA 200
BIASES IN COLLECTING DATA 200 INTERPRETING DATA AND TESTING HYPOTHESES
201 SEX CHROMATIN AND THE LYON EFFECT 202 DETECTION OF SEX CHROMATIN IN
HUMANS 203
THE INACTIVE X HYPOTHESIS 203 EVIDENCE FOR LYONIZATION 204 OTHER
CONSIDERATIONS 206 DYNAMIC MUTATIONS AND THE FRAGILE X
SYNDROME 206 GENETICS OF THE FRAGILE X SYNDROME 207 MOLECULAR BIOLOGY OF
FRAGILE X 208 GENOMIC IMPRINTING 209
MAMMALS NEED BOTH A MOM AND A DAD 209 HOW AND WHY DOES IMPRINTING OCCUR?
210 IMPRINTING AND HUMAN DISORDERS 210 INHERITANCE PATTERNS OF IMPRINTED
ALLELES 213 OTHER UNEXPECTED VARIATIONS IN GENE STRUCTURE
AND FUNCTION 214 GENES WITHIN A GENE 214 JUMPING GENES 214
IMAGE 3
CONTENTS IX
CHAPTER 11 QUANTITATIVE AND
BEHAVIORAL TRAITS 217 GENETIC AND ENVIRONMENTAL VARIATION 218
HERITABILITY 220 THE GENETIC COMPONENT OF VARIATION 221
AN ADDITIVE MODEL 221 SKIN COLOR 223 TWINS IN GENETIC RESEARCH 224 THE
BIOLOGY OF TWINNING 224
ANALYSIS OF TWIN DATA 225 BEHAVIORAL TRAITS 228 A GENETIC COMPONENT TO
HUMAN BEHAVIOR 228
INTELLIGENCE 230 PERSONALITY 234 ALCOHOLISM 235 HOMOSEXUALITY 236
CHAPTER 19. POPULATION GENETICS AND EVOLUTION 241 A BRIEF HISTORY 241
POPULATION GENETICS 243
THE HARDY-WEINBERG LAW 245 SOME APPLICATIONS 248 AN EXCEPTION:
INBREEDING 250 MECHANISMS OF EVOLUTION 253 MUTATION 253 SELECTION 254
MIGRATION AND GENE FLOW 257 GENETIC DRIFT 258 HUMAN EVOLUTION 259 THE
ORIGIN OF MAJOR HUMAN GROUPS 261
CYTOGENETICS AND
DEVELOPMENT CHAPTER 13 CHANGES IN CHROMOSOME NUMBER 267 MISTAKES IN CELL
DIVISION 269
MEIOTIC NONDISJUNCTION 269 MITOTIC NONDISJUNCTION 269 FREQUENCY AND
ORIGIN OF DOWN SYNDROME 273 DOWN SYNDROME AND ALZHEIMER DISEASE 275
ANIMAL MODELS 275 MOSAICISM AND DOWN SYNDROME 276 OTHER AUTOSOMAL
ANEUPLOIDS 276 NONDISJUNCTION OF SEX CHROMOSOMES 278
KLINEFELTER SYNDROME: 47,XXY MALES 278 THE 47,XYY KARYOTYPE 279 TURNER
SYNDROME: 45,X FEMALES 280 POLY-X FEMALES 282
CHAPTER 14 OTHER CHROMOSOMAL ABNORMALITIES 285 DELETIONS AND
DUPLICATIONS 286 SUPERNUMERARY CHROMOSOMES AND
ISOCHROMOSOMES 290 MICRODELETIONS AND MICRODUPLICATIONS 290
TRANSLOCATIONS 291 BEHAVIOR OF TRANSLOCATIONS IN MEIOSIS 292
TRANSLOCATION DOWN SYNDROME 293 TRANSLOCATIONS INVOLVING SEX CHROMOSOMES
295 OTHER ABNORMALITIES 295 INVERSIONS 296
RING CHROMOSOMES 297 POLYPLOIDY 297 UNIPARENTAL DISOMY 298 FREQUENCIES
OF CHROMOSOMAL ABNORMALITIES 299
GAMETES AND FETUSES 299 ABORTIONS, STILLBIRTHS, AND NEONATAL DEATHS 299
NEWBORNS AND ADULTS 301 CONCLUSIONS ON FETAL LOSS 301 CHROMOSOMAL
ABNORMALITIES AND
GENE MAPPING 302
CHAPTER 15 DEVELOPMENT 307
HUMAN EMBRYONIC DEVELOPMENT 308 GENETICS OF EMBRYONIC DEVELOPMENT 311
MATERNAL EFFECT GENES 311 SEGMENTATION AND PATTERN FORMATION GENES 312
HOMEOTIC GENES IN VERTEBRATES 315 OTHER HOMEOBOX-CONTAINING GENES 317
SIGNALING MOLECULES 318 ADHESION MOLECULES AND GENES 322 PROGRAMMED CELL
DEATH AND SUICIDE GENES 323 SEXUAL DEVELOPMENT 324
PRENATAL DEVELOPMENT 325 POSTNATAL DEVELOPMENT 327 SOME ERRORS IN SEXUAL
DEVELOPMENT 329 DEFECTS OF ANDROGEN TARGET CELLS 330
DEFICIENCY OF 5-A-REDUCTASE 331 SEX REVERSAL AND THE SRY GENE 331
GENETIC DISEASE
CHAPTER 16 METABOLIC DISORDERS 339 THE CONCEPT OF INHERITED METABOLIC
DISEASE 340 GARROD S INBORN ERRORS OF METABOLISM 340 DETECTION OF
METABOLIC DISEASE IN NEWBORNS 341 TAY-SACHS DISEASE 343
STRUCTURAL AND BIOCHEMICAL ABNORMALITIES 344 MOLECULAR BIOLOGY AND
GENETIC VARIANTS 345 PHENYLKETONURIA AND SOME RELATED CONDITIONS 346
DIETARY TREATMENT 347
IMAGE 4
CONTENTS
NEONATAL SCREENING AND PKU VARIANTS 347 MOLECULAR BIOLOGY AND
GENOTYPE/PHENOTYPE CORRELATIONS 349 MATERNAL PHENYLKETONURIA 350
ALBINISM 350
ALBINO PHENOTYPES 351 BIOCHEMISTRY AND MOLECULAR BIOLOGY 352 LESCH-NYHAN
SYNDROME 353 BIOCHEMISTRY 353
GENETICS AND MOLECULAR BIOLOGY 354 CARRIER DETECTION AND PRENATAL
DIAGNOSIS 354 ANIMAL MODELS AND POSSIBLE GENE THERAPY 355 CONGENITAL
ADRENAL HYPERPLASIA 355 BIOCHEMISTRY AND PHENOTYPES 355 GENETICS AND
MOLECULAR BIOLOGY 356 PHARMACOGENETICS AND ECOGENETICS 357
GLUCOSE-6-PHOSPHATE DEHYDROGENASE
DEFICIENCY 357 THE PORPHYRIAS 358 OTHER DRUG REACTIONS 359 LUNG DISEASE
AND ECOGENETICS 360
WHY DO DRUG-METABOLIZING ENZYMES EXIST? 361
CHAPTER 17 THE GENETIC BASIS OF CANCER 365 CANCEROUS CELLS 366 MUTATIONS
OF TUMOR SUPPRESSOR GENES 369
LI-FRAUMENI SYNDROME AND GENE P53 369 RETINOBLASTOMA AND GENE RBI 373
BREAST CANCER AND GENE BRCA1 376 MUTATIONS OF PROTO-ONCOGENES 378
THE PROTEINS ENCODED BY ONCOGENES 379 RETROVIRUSES 381 CHROMOSOMAL
CHANGES 383 PROTO-ONCOGENES AT TRANSLOCATION BREAKPOINTS 383
OTHER SPECIFIC CHROMOSOMAL ABNORMALITIES 384 ENVIRONMENTAL FACTORS 386
CHAPTER 18 THE GENETIC BASIS OF IMMUNITY 389 THE IMMUNE RESPONSE 390
COMPONENTS OF THE IMMUNE SYSTEM 390
THE B CELL RESPONSE 393 THE T CELL RESPONSE 395 ANTIBODIES 395 STRUCTURE
395
ANTIBODY DIVERSITY 397 ANTIBODY ENGINEERING 398 RED CELL ANTIGENS AND
BLOOD TRANSFUSION 400 THE ABO BLOOD GROUP SYSTEM 402
THE RH BLOOD GROUP SYSTEM 403 TISSUE ANTIGENS AND ORGAN TRANSPLANTATION
406 THE HLA SYSTEM AND TISSUE TYPING 406
TRANSPLANTATION 408 IMMUNE SYSTEM DISORDERS 409 IMMUNE DEFICIENCIES 409
AUTOIMMUNE DISORDERS 411
PRACTICES AND PROSPECTS
CHAPTER 19 DETECTING GENETIC DISEASE 417 GENETIC COUNSELING 419 THE
PROCEDURE 419
ETHICAL CONCERNS 421 PRENATAL DIAGNOSIS 422 PROCEDURES FOR OBTAINING
FETAL CELLS 422 INDICATIONS AND RESULTS 424
SEX PREDICTION AND PREIMPLANTATION DIAGNOSIS 427 GENETIC SCREENING 429
SCREENING FOR EARLY DETECTION OF GENETIC DISEASE 430
SCREENING ADULTS FOR CARRIER STATUS 432
CHAPTER 20 ALTERING GENETIC TRAITS 437 TREATING GENETIC DISEASE 438 SOME
CURRENT PRACTICES 438
ANTISENSE THERAPY 442 GENE THERAPY 443 DEALING WITH NORMAL TRAITS 447
CHOOSING YOUR CHILD S SEX 447
CLONING YOURSELF 449 CHANGING FREQUENCIES OVER TIME 453 NEGATIVE
EUGENICS 455 POSITIVE EUGENICS 455 CONCLUSION 455
APPENDIX 1 459
APPENDIX 2 460
APPENDIX 3 465
ANSWERS TO QUESTIONS 469
GLOSSARY 482
BIBLIOGRAPHY 494
INDEX 509
|
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| indexdate | 2024-07-09T21:36:35Z |
| institution | BVB |
| isbn | 0878934979 |
| language | German |
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| physical | XIII, 530 S. Ill., graph. Darst. 1 CD-ROM (12 cm) |
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| spelling | Mange, Elaine Johansen Verfasser aut Basic human genetics Elaine Johannsen Mange ; Arthur P. Mange 2. ed. Sunderland, Mass. Sinauer Assoc. 1999 XIII, 530 S. Ill., graph. Darst. 1 CD-ROM (12 cm) txt rdacontent n rdamedia nc rdacarrier Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Mange, Arthur P. Verfasser aut SWB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017418715&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Mange, Elaine Johansen Mange, Arthur P. Basic human genetics Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4072653-8 |
| title | Basic human genetics |
| title_auth | Basic human genetics |
| title_exact_search | Basic human genetics |
| title_full | Basic human genetics Elaine Johannsen Mange ; Arthur P. Mange |
| title_fullStr | Basic human genetics Elaine Johannsen Mange ; Arthur P. Mange |
| title_full_unstemmed | Basic human genetics Elaine Johannsen Mange ; Arthur P. Mange |
| title_short | Basic human genetics |
| title_sort | basic human genetics |
| topic | Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Humangenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017418715&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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