Introduction to genetic analysis:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
New York
Freeman [u.a.]
2012
|
| Ausgabe: | Internat. 10. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Hier auch später erschienene, unveränderte Nachdrucke |
| Beschreibung: | XXI, 802 S. zahlr. Ill., graph. Darst. |
| ISBN: | 9781429276344 |
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| 245 | 1 | 0 | |a Introduction to genetic analysis |c Anthony J. F. Griffiths ... |
| 250 | |a Internat. 10. ed. | ||
| 264 | 1 | |a New York |b Freeman [u.a.] |c 2012 | |
| 300 | |a XXI, 802 S. |b zahlr. Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Hier auch später erschienene, unveränderte Nachdrucke | ||
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Datensatz im Suchindex
| _version_ | 1804143817178218496 |
|---|---|
| adam_text | Contents in Brief
Contents
Preface
xiii
Preface
xiii
1
The Genetics
Revolution in
the
D
The Genetics Revolution in the
Life Sciences
1
Life Sciences
1
PART l TRANSMISSION
GENETICS
1.1
The Nature of Biological Information
2
2 Single-Gene
Inheritance
27
The molecular structure of
DNA
3
3
Independent Assortment of
Genes
77
DNA
is organized into genes and chromosomes
4
4
Mapping Eukaryote Chromosomes
1.2
How Information Becomes Biological Form
9
by Recombination
115
Transcription
9
5
The Genetics of Bacteria and
Translation
10
Their Viruses
159
How does life replicate itself?
η
6
Gene Interaction
199
Change at the
DNA
level
12
1.3
Genetics and Evolution
14
PARTII
FROMDNATOPHENOTYPE
Natural selection
14
7
Large-Scale Chromosomal Changes
235
Constructing evolutionary lineages
15
8 DNA:
Structure and Replication
279
1.4
Genetics Has Provided a Powerful New
9
RNA:
Transcription and Processing
311
Approach to Biological Research
17
10
Proteins and Their Synthesis
337
Forward genetics
17
11
Gene Isolation and Manipulation
367
Reverse genetics
17
12
Regulation of Gene Expression in
Manipulating
DNA
18
Bacteria and Their Viruses
407
Detecting specific sequences of
DNA, RNA,
13
Regulation of Gene Expression in
and protein
18
Eukaryotes
439
1.5
Model Organisms Have Been Crucial in the
14
The Genetic Control of Development
473
Genetics Revolution
21
15
Genomes and Genomics
509
1.6
Genetics Changes Society
23
1.7
Genetics and the Future
24
PART III MUTATION, VARIATION,
AND EVOLUTION
PART I TRANSMISSION GENETICS
16
The Dynamic Genome:
Transposable Elements
545
Single-Gene Inheritance
27
17
Mutation, Repair, and Recombination
575
2.1
Single-Gene Inheritance Patterns
29
18
Population Genetics
609
Mendel s pioneering experiments
29
19
The Inheritance of Complex Traits
655
Mendel s law of equal segregation
32
20
Evolution of Genes and Traits
699
2.2
The Chromosomal Basis of Single-Gene
Inheritance Patterns
34
A Brief Guide to Model Organisms
Appendix A: Genetic Nomenclature
73Ί
747
2.3
Single-gene inheritance in diploids
Single-gene inheritance in haploids
The Molecular Basis of Mendelian
34
39
Appendix B: Bioinformatics Resources for
Inheritance Patterns
40
Genetics and Genomics
748
Structural differences between
alíeles
at the
Glossary
751
molecular level
40
Answers to Selected Problems
769
Molecular aspects of gene transmission
41
Index
π9
Alíeles
at the molecular level
44
VI
CONTENTS
IA
Some Genes Discovered by Observing
Π
Mapping Eukaryote Chromosomes
Segregation Ratios
46
by Recombination
115
A gene active in the development of
/
flower color
47
4.1
Diagnostics of Linkage
117
A gene for wing development
47
Using
recombinant
frequency to estimate linkage
117
A gene for hyphal branching
48
How crossovers produce
recombinants
for
Forward genetics
49
linked genes
119
Predicting progeny proportions or parental
Linkage symbolism and terminology
119
genotypes by applying the principles of
Evidence that crossing over is a breakage-and-
single-gene inheritance
49
rejoining process
120
2.5
Sex-Linked Single-Gene Inheritance
Evidence that crossing over takes place at the
Patterns
50
|
four-chromatid stage
121
Sex chromosomes
50
Multiple crossovers can include more than
Sex-linked patterns of inheritance
51
two ch
romatids
121
Х
-linked inheritance
51
|
4.2
Mapping by
Recombinant
Frequency
122
2.6
Human Pedigree Analysis
54
|
Map units
122
Autosomal recessive disorders
55
|
Three-point testcross
126
Autosomal dominant disorders
56
Deducing gene order by inspection
128
Autosomal polymorphisms
58
Interference
129
Х
-linked recessive disorders
60
Using ratios as diagnostics
131
Х
-linked dominant disorders
62
4.3
Mapping with Molecular Markers
131
Y-linked inheritance
63
Single nucleotide polymorphisms
132
Calculating risks in pedigree analysis
63
Simple sequence length polymorphisms
132
Detecting simple sequence length polymorphism
133
Recombination analysis using molecular
и
independent Assortment of Genes
77
markers
133
3.1
Mendel s Law of Independent Assortment
78
4.4
Centromere Mapping with Linear Tetrads
136
3.2
Working with Independent Assortment
82
4.5
Using the Chi-Square Test for Testing
Predicting progeny ratios
82
Linkage Analysis
137
Using the chi-square test on
monohybrid
and
4.6
Accounting for Unseen Multiple Crossovers
139
dihybrid ratios
85
j
A mapping function
140
Synthesizing pure lines
87
The Perkins formula
141
Hybrid vigor
89
4.7
Using Recombination-Based Maps in
3.3
The Chromosomal Basis of Independent
Conjunction with Physical Maps
142
Assortment
90
4.8
The Molecular Mechanism of Crossing Over
144
Independent assortment in diploid organisms
91
і
Independent assortment in haploid organisms
92
Q
The Genetics of Bacteria and
Independent assortment of combinations of
autosomal and
Х
-linked genes
93
Their Viruses
159
Recombination
95
5.1
Working with Microorganisms
161
3.4
Polygenic Inheritance
97
! 5.2
Bacterial Conjugation
163
3.5
Organelle
Genes: Inheritance Independent
Discovery of conjugation
763
of the Nucleus
99
Discovery of the fertility factor (F)
765
Patterns of inheritance in
organdíes
100
Hfr strains
766
Cytoplasmic segregation
101
Mapping of bacterial chromosomes
770
Cytoplasmic mutations in humans
103
F plasmids
that carry genomic fragments
174
MtDNA in evolutionary studies
105
R
plasmids
174
CONTENTS
VII
5.3
Bacterial
Transformation 177
The nature of transformation
177
Chromosome mapping using transformation
178
5.4
Bacteriophage Genetics
178
Infection of bacteria by phages
178
Mapping phage chromosomes by using phage crosses
180
5.5
Transduction
182
Discovery of transduction
182
Generalized transduction
183
Specialized transduction
185
Mechanism of specialized transduction
186
5.6
Physical Maps and Linkage Maps Compared
187
В
Gene Interaction
199
6.1
Interactions Between the
Alíeles
of a
Single Gene: Variations on Dominance
200
Complete dominance and recessiveness
200
Incomplete dominance
202
Codominance
202
Recessive lethal
alíeles
204
6.2
Interaction of Genes in Pathways
207
Biosynthetic pathways in
Neurospora
207
Cene
interaction in other types of pathways
209
6.3
Inferring Gene Interactions
210
Sorting mutants using the complementation test
210
Analyzing double mutants of random mutations
214
6.4
Penetrance
and Expressivity
221
PAR
I ¡I FROM
DNA
TO PHENOTYPE
fcl
Large-Scale Chromosomal Changes
23b
7.1
Changes in Chromosome Number
237
Aberrant Euploidy
237
Aneuploidy
245
The concept of gene balance
249
7.2
Changes in Chromosome Structure
252
Deletions
255
Duplications
258
Inversions
260
Reciprocal
translocations
263
Robertsonian
translocations
265
Applications of inversions and
translocations
266
Rearrangements and cancer
267
Identifying chromosome mutations by genomics
268
7.3
Overall Incidence of Human Chromosome
Mutations
268
ІД
DNA:
Structure and Replication
8.1 DNA:
The Genetic Material
Discovery of transformation
Hershey-Chase experiment
8.2
The
DNA
Structure
DNA
structure before Watson and Crick
The double helix
8.3
Semiconservative
Replication
Meselson-Stahl experiment
The replication fork
DNA polymerases
8.4
Overview of
DNA
Replication
8.5
The Replisome: A Remarkable Replication
Machine
Unwinding the double helix
Assembling the replisome: replication initiation
8.6
Replication in Eukaryotic Organisms
The eukaryotic replisome
Eukaryotic origins of replication
DNA
replication and the yeast cell cycle
Replication origins in higher eukaryotes
8.7
Telomeres and Telomerase: Replication
Termination
H RNÀ: Transcription
and Processing
9.1
RNA
Early experiments suggest an
RNA
intermediate
Properties of
RNA
Classes of
RNA
9.2
Transcription
Overview:
DNA
as transcription template
Stages of transcription
9.3
Transcription in Eukaryotes
Transcription initiation in eukaryotes
Elongation, termination, and pre-mRNA
processing in eukaryotes
323
9.4
Intron
Removal and Exon Splicing
326
Small nuclear RNAs (snRNAs): The mechanism
of exon splicing
326
Self-splicing
introns
and the
RNA
world
328
9.5
Small Functional RNAs that Regulate and
Protect the Eukaryotic Genome
328
miRNAs are important regulators of gene expression
328
siRNAs ensure genome stability
330
Similar mechanisms generate siRNA and miRNA
333
279
280
280
282
284
284
286
289
290
291
292
294
296
297
298
299
299
300
301
302
303
311
313
313
313
315
316
317
317
320
322
VIII
CONTENTS
■Πι
Proteins and Their Synthesis
337
10.1
Protein Structure
339
10.2
The Genetic Code
342
Overlapping versus
nonoverlapping
codes
342
Number of letters in the codon
343
Use of suppressors to demonstrate a
triplet code
343
Degeneracy of the genetic code
345
Cracking the code
345
Stop
codons
346
10.3
tRNA: The Adapter
347
Codon translation by tRNA
347
Degeneracy revisited
349
10.4
Ribosomes
350
Ribosome features
352
Translation initiation, elongation, and
termination
353
Nonsense suppressor mutations
356
10.5
TheProteome
357
Alternative splicing generates protein isoforms
357
Posttranslational events
358
11.6
Genetic Engineering
395
Genetic engineering in Saccharomyces cerevisiae
396
Genetic engineering in plants
397
Genetic engineering in animals
399
ЦІ
Gene Isolation and Manipulation
367
11.1
Overview: Isolating and Amplifying
Specific
DNA
Fragments
368
11.2
Generating
Recombinant
DNA
Molecules
370
Genomic
DNA
can be cut up before cloning
370
The polymerase chain reaction amplifies
selected regions of
DNA in
vitro
371
DNA
copies ofmRNA can be synthesized
373
Attaching donor and vector
DNA 374
Amplification of donor
DNA
inside a
bacterial cell
377
Making genomic and cDNA libraries
380
11.3
Finding a Specific Clone of Interest
381
Finding specific clones by using probes
381
Finding specific clones by functional
complementation
384
Southern- and Northern-blot analysis of
DNA 385
11.4
Determining the Base Sequence of a
DNA
Segment
387
11.5
Aligning Genetic and Physical Maps to
Isolate Specific Genes
390
Using positional cloning to identify a
human-disease gene
391
Using fine-mapping to identify genes
393
Regulation of Gene Expression in
Bacteria and Their Viruses
407
409
12.1
Gene Regulation
The basics of prokaryotic transcription
al
regulation: genetic switches
410
A first look at the lac regulatory circuit
4
1
1
12.2
Discovery of the lac System:
Negative Control
414
Genes controlled together
414
Genetic evidence for the operator and
repressor
415
Genetic evidence for allostery
417
Genetic analysis of the lac promoter
418
Molecular characterization of the Lac
repressor
and the lac operator
418
Polar mutations
419
12.3
Catabolite Repression of the lac Operon:
Positive Control
420
The basics of lac catabolite repression: choosing
the best sugar to metabolize
420
The structure of
DNA
target sites
421
A summary of the lac operon
422
12.4
Dual Positive and Negative Control:
The Arabinose Operon
423
12.5
Metabolic Pathways and Additional Levels
of Regulation: Attenuation
424
12.6
Bacteriophage Life Cycles: More Regulators,
Complex
Opérons
428
Molecular anatomy of the genetic switch
431
Sequence-specific binding of regulatory
proteins to
DNA 432
12.7
Alternative Sigma Factors Regulate Large
Sets of Genes
433
439
440
444
445
446
Regulation of Gene Expression in
Eukaryotes
13.1
Transcriptional Regulation in Eukaryotes:
An Overview
13.2
Lessons from Yeast: The GAL System
Gal4 regulates
multíple
genes through upstream
activation sequences
The Gal4 protein has separable DNA-binding
and activation domains
CONTENTS
IX
Gal4 activity is physiologically regulated
446
Cal4 functions in most eukaryotes
447
Activators recruit the transcriptional machinery
447
The control of yeast mating type:
combinatorial interactions
448
13.3
Dynamic Chromatin
450
Chromatin-remodeling proteins and gene
activation
452
Histones and chromatin remodeling
452
The inheritance of histone modifications and
chromatin structure
454
DNA methylation:
another heritable mark that
influences chromatin structure
455
13.4
Short-Term Activation of Genes in a
Chromatin Environment
456
The
^-interferon
enhanceosome
457
Enhancer-blocking insulators
458
13.5
Long-Term Inactivation of Genes in a
Chromatin Environment
459
Mating-type switching and gene silencing
459
Heterochromatin and euchromatin compared
461
Position-effect variegation in
Drosophila
reveals
genomic neighborhoods
4ЬІ
Genetic analysis of PEV reveals proteins
necessary for heterochromatin formation
46.Ï
13.6
Gender-Specific Silencing of Genes and
Whole Chromosomes
465
Cenomic imprinting explains some unusual
patterns of inheritance
4Ь5
But what about Dolly and other cloned
mammals?
4Ь7
Silencing an entire chromosome:
Х
-chromosome inactivation
467
13.7
Post-Transcriptional Gene Repression
by miRNAs
468
Ш
I he Genetic Control of
Development
473
14.1
The Genetic Approach to Development
474
14.2
The Genetic Toolkit for
Drosophila
Development
476
Classification of genes by developmental
function
477
Homeotic genes and
segmental
identity
478
Organization and expression
o/ Hox genes
479
The homeobox
481
Clusters of Hox genes control development in
most animals
482
14.3
Defining the Entire Toolkit
485
The anteroposterior and dorsoventral axes 48b
Expression of toolkit genes
487
14.4
Spatial Regulation of Gene Expression in
Development
490
Maternal gradients and gene activation
490
Drawing stripes: integration of gap-protein inputs
492
Making segments different: integration of
Hox inputs
495
14.5
Posttranscriptional Regulation of Gene
Expression in Development
497
RNA
splicing and sex determination in
Drosophila
497
Regulation of mRNA translation and cell lineage
in
C. elegans
499
Translational control in the early embryo
499
miRNA control of developmental timing in
C. elegans
and other species
502
14.6
From Flies to Fingers, Feathers, and Floor Plates:
The Many Roles of Individual Toolkit Genes
503
14.7
Development and Disease
504
Polydactyly
504
Holoprosencephaly
505
Cancer as a developmental disease W5
509
511
512
5/2
514
514
515
517
519
519
520
520
524
527
527
529
531
Genomes and Genomics
15.1
The Genomics Revolution
15.2
Obtaining the Sequence of a Genome
Turning sequence reads into an assembled
sequence
Whole-genome sequencing
Traditional
WCS
Next-generation whole-genome shotgun
sequencing
Whole-genome-sequence assembly
Toward the personalized genome
15.3
Bioinformatics: Meaning from Genomic
Sequence
The nature of the information content of
DNA
Deducing the protein-encoding genes from
genomic sequence
15.4
The Structure of the Human Genome
15.5
Comparative Genomics
Phylogenetic inference
Ofmice
and humans
Comparative genomics of chimpanzees and
humans
CONTENTS
Comparative genomics
of humans
531
Conserved and ultraconserved noncoding
elements
532
Comparative genomics of nonpathogenic and
pathogenic
E. coli
533
15.6
Functional Genomics and Reverse
Genetics
534
Оте,
sweet
оте
535
Reverse genetics
538
PARTII!
MUTATION,VARIATION,
AND EVOLUTION
ПЯ
1
he Dynamic Genome:
Transposable Elements
545
16.1
Discovery of Transposable Elements
in Maize
546
McClintock s experiments: the Ds element
546
Autonomous and nonautomous elements
549
Transposable elements: only in maize?
550
16.2
Transposable Elements in Prokaryotes
550
Bacterial insertion sequences
551
Prokaryote
transposons
552
Mechanism of transposition
552
16.3
Transposable Elements in Eukaryotes
555
Class I
:
retrotransposons
555
Class
2: DNA
transposons
559
Utility of
DNA
transposons
for gene discovery
562
16.4
The Dynamic Genome: More Transposable
Elements Than Ever Imagined
564
Large genomes are largely transposable elements
564
Transposable elements in the human genome
565
The grasses: LTR retrotransposons thrive in
large genomes
567
Safe havens
567
16.5
Epigenetic Regulation of Transposable
Elements by the Host
569
[Q Mutation, Repair, and
Recombination
575
17.1
The Phenotypic Consequences of
DNA
Mutations
576
Types of point mutation
576
The molecular consequences of point
mutations in a coding region
578
The molecular consequences of point
mutations in a noncoding region
579
17.2
The Molecular Basis of Spontaneous
Mutations
Luria and
Delbrück
fluctuation test
Mechanisms of spontaneous mutations
Spontaneous mutations in humans:
trinucleotide-repeat diseases
17.3
The Molecular Basis of Induced Mutations
Mechanisms of mutagenesis
The Ames test: evaluating
mutagens
in our
environment
17.4
Biological Repair Mechanisms
Direct reversal of damaged
DNA
Base-excision repair
Nucleotide-excision repair
Postreplication repair: mismatch repair
Error-prone repair: translesion
DNA
synthesis
Repair of double-strand breaks
The involvement of DSB repair in meiotic
recombination
17.5
Cancer: An Important Phenotypic
Consequence of Mutation
How cancer cells differ from normal cells
Mutations in cancer cells
IB! Population Genetics
18.1
Detecting Genetic Variation
Single nudeotide polymorphisms (SNPs)
Microsatellites
Haplotypes
Other sources and forms of variation
The HapMap project
18.2
The Gene-Pool Concept and the
Hardy-Weinberg Law
18.3
Mating Systems
Assortative mating
Isolation by distance
Inbreeding
The inbreeding coefficient
Population size and inbreeding
18.4
Genetic Variation and Its Measurement
18.5
The Modulation of Genetic Variation
New
alíeles
enter the population:
mutation and migration
Recombination and linkage disequilibrium
Cene
drift and population size
Selection
580
580
582
584
586
586
589
591
597
591
593
596
597
599
601
602
602
603
609
610
67
T
672
672
674
675
616
620
627
621
622
623
625
627
630
630
63 7
633
638
CONTENTS
Xl
Forms of selection
Balance between mutation and drift
Balance between mutation and selection
18.6
Biological and Social Applications
Conservation genetics
Calculating disease risks
DNA forensics
Coogling your
DNA
mates
641
644
645
646
646
647
64θ
649
ПЯ
I he Inheritance of Complex Traits
655
19.1
Measuring Quantitative Variation
657
Types of traits and inheritance
657
The mean
658
The variance
659
The normal distribution
660
19.2
A Simple Genetic Model for Quantitative
Variation
Genetic and environmental deviations
Genetic and environmental variances
Correlation between variables
19.3
Broad-Sense Heritability: Nature Versus
Nurture
661
66/
663
665
667
Measuring heritability in humans using twin studies
668
19.4
Narrow-Sense Heritability: Predicting
Phenotypes
671
Gene action and the transmission of genetic variation
671
The additive and dominance effects
672
A model with additivity and dominance
674
Narrow-sense heritability
676
Predicting offspring phenotypes
679
Selection on complex traits
680
19.5
Mapping QTL in Populations with Known
Pedigrees
682
The basic method
683
From QTL to gene
. 687
19.6
Association Mapping in Random-Mating
Populations
689
The basic method
690
GWA, genes, disease, and heritability
692
of Genes and Traits
699
20.1
Evolution by Natural Selection
702
20.2
Molecular Evolution: The Neutral
Theory
704
The development of the neutral theory
704
The rate of neutral substitutions
706
The signature of purifying selection on
DNA 706
20.3
Natural Selection in Action:
An Exemplary Case
707
The selective advantage of HbS
709
The molecular origins of HbS
710
20.4
Cumulative Selection and the Multistep
Paths to Functional Change
712
Multistep pathways in evolution
712
The signature of positive selection on
DNA
sequences
716
20.5
Morphological Evolution
716
Adaptive changes in a pigment-regulating
protein
717
Gene inactivation
718
Regula tory-sequence
evolution
719
Loss of characters through regulatory-sequence
evolution
721
Regulatory evolution in humans
722
20.6
The Origin of New Genes and Protein
Functions
724
Expanding gene number
724
The fate of duplicated genes
725
A Brief Guide to Model Organisms
731
Appendix A: Genetic Nomenclature
747
Appendix B: Bioinformatics Resources
for Genetics and Genomics
748
Glossary
751
Answers to Selected Problems
769
Index
779
|
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| spelling | Introduction to genetic analysis Anthony J. F. Griffiths ... Internat. 10. ed. New York Freeman [u.a.] 2012 XXI, 802 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Hier auch später erschienene, unveränderte Nachdrucke Methode (DE-588)4038971-6 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf CD-ROM (DE-588)4139307-7 gnd rswk-swf 1\p (DE-588)4151278-9 Einführung gnd-content 2\p (DE-588)4123623-3 Lehrbuch gnd-content Genetik (DE-588)4071711-2 s Methode (DE-588)4038971-6 s 3\p DE-604 CD-ROM (DE-588)4139307-7 s 4\p DE-604 Griffiths, Anthony J. F. Sonstige oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=021131345&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 2\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 3\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 4\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Introduction to genetic analysis Methode (DE-588)4038971-6 gnd Genetik (DE-588)4071711-2 gnd CD-ROM (DE-588)4139307-7 gnd |
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| title | Introduction to genetic analysis |
| title_auth | Introduction to genetic analysis |
| title_exact_search | Introduction to genetic analysis |
| title_full | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_fullStr | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_full_unstemmed | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_short | Introduction to genetic analysis |
| title_sort | introduction to genetic analysis |
| topic | Methode (DE-588)4038971-6 gnd Genetik (DE-588)4071711-2 gnd CD-ROM (DE-588)4139307-7 gnd |
| topic_facet | Methode Genetik CD-ROM Einführung Lehrbuch |
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