Download Figure 8-1

William S. Klug
Michael R. Cummings
Charlotte A. Spencer
Concepts of Genetics
Eighth Edition
Chapter 8
Chromosome Mutations:
Variation in Chromosome
Number and Arrangement
Copyright © 2006 Pearson Prentice Hall, Inc.
Specific Terminology
Describes Variations in
Chromosome Number
Table 8-1
Copyright © 2006 Pearson Prentice Hall, Inc.
Variation in the Number of
Chromosomes Results from
Nondisjunction
Figure 8-1
Copyright © 2006 Pearson Prentice Hall, Inc.
Monosomy, the Loss of a
Single Chromosome, May
Have Severe Phenotypic
Effects
Partial Monosomy in Humans:
The Cri-du-Chat Syndrome
46, -5p
Figure 8-2
Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy Involves the Addition
of a Chromosome to a
Diploid Genome
Figure 8-3 Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy during meiosis
Figure 8-4
Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy Involves the Addition
of a Chromosome to a
Diploid Genome
Down Syndrome
47, +21
Figure 8-5
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-6
Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy Involves the Addition
of a Chromosome to a
Diploid Genome
Patau Syndrome
47, +13
Patau Syndrome
1: 19,000
Figure 8-7
Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy Involves the Addition
of a Chromosome to a
Diploid Genome
Edwards Syndrome
47, +18
Edwards Syndrome
1: 8,000
Figure 8-8
Copyright © 2006 Pearson Prentice Hall, Inc.
Trisomy Involves the Addition
of a Chromosome to a
Diploid Genome
Viability in Human Aneuploidy
Up to 30 percent of all fertilized eggs in humans may contain
an error in chromosome number!
45,X has one of the highest incidence rates among abortuses.
Also, about 80 percent of 45,X have the maternal X.
Polyploidy, in Which More
Than Two Haploid Sets of
Chromosomes Are Present,
Is Prevalent in Plants
Figure 8-9
Copyright © 2006 Pearson Prentice Hall, Inc.
Polyploidy, in Which More
Than Two Haploid Sets of
Chromosomes Are Present,
Is Prevalent in Plants
Autopolyploidy
Figure 8-10
Copyright © 2006 Pearson Prentice Hall, Inc.
Polyploidy, in Which More
Than Two Haploid Sets of
Chromosomes Are Present,
Is Prevalent in Plants
Allopolyploidy
Endopolyploidy
Variation Occurs in the
Structure and Arrangement
of Chromosomes
Figure 8-14
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-14a
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-14b
Copyright © 2006 Pearson Prentice Hall, Inc.
Gene Copy Number Variants
Gene Xeroxing
Science (2007) 317:1315-1317
Figure 8-14c
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-14d
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-14e
Copyright © 2006 Pearson Prentice Hall, Inc.
A Deletion Is a Missing
Region of a Chromosome
Figure 8-15
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-15a
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-15b
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-15c
Copyright © 2006 Pearson Prentice Hall, Inc.
Table 8-2
Copyright © 2006 Pearson Prentice Hall, Inc.
A Duplication Is a Repeated
Segment of the Genetic
Material
Figure 8-17
Copyright © 2006 Pearson Prentice Hall, Inc.
A Duplication Is a Repeated
Segment of the Genetic
Material
Gene Redundancy and Amplification:
Ribosomal RNA Genes
The Bar-Eye Mutation in Drosophila
Figure 8-18a
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-18b
Copyright © 2006 Pearson Prentice Hall, Inc.
A Duplication Is a Repeated
Segment of the Genetic
Material
The Role of Gene Duplication in
Evolution
Inversions Rearrange the
Linear Gene Sequence
Figure 8-19
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-20
Copyright © 2006 Pearson Prentice Hall, Inc.
Inversions Rearrange the
Linear Gene Sequence
Consequences of Inversions during
Gamete Formation
Figure 8-21
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-22a
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-22b
Copyright © 2006 Pearson Prentice Hall, Inc.
Inversions Rearrange the
Linear Gene Sequence
Position Effects of Inversions
Evolutionary Advantages of Inversions
Translocations Alter the
Location of Chromosomal
Segments in the Genome
Figure 8-23
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-23a
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-23b
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-23c
Copyright © 2006 Pearson Prentice Hall, Inc.
Translocations Alter the
Location of Chromosomal
Segments in the Genome
Translocations in Humans:
Familial Down Syndrome
Figure 8-24
Copyright © 2006 Pearson Prentice Hall, Inc.
Figure 8-25
Copyright © 2006 Pearson Prentice Hall, Inc.
Fragile Sites in Humans
Are Susceptible to
Chromosome Breakage
Fragile X Syndrome (Martin–Bell
Syndrome)
Figure 8-26
Copyright © 2006 Pearson Prentice Hall, Inc.