Copyright © 2009 Pearson Education, Inc. Chapter 8 Lecture Concepts of Genetics Tenth Edition...

Chapter 8 Lecture

Concepts of GeneticsTenth Edition

Chromosome Mutations: Variation in Chromosome Number and Arrangement

8.1 Specific Terminology Describes Variations in Chromosome Number

8.1.1 Variation in the Number of Chromosomes Results from Nondisjunction

8.2 Monosomy and Trisomy Result in a Variety of Phenotypic Effects

Partial Monosomy in Humans—Cri-du-Chat Syndrome46,5p-

46,5p- Cri-du-Chat

8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome

A trisomy can be perpetuated

8.3.1 Down Syndrome 47,21+

Father’s Age Is Linked to Risk of Autism and Schizophrenia

August 22, 2012

Number of mutations fromDad increases by 2 per year fromage 25 on. Number of mutations from Mom is about 15 regardlessof Mom’s age.

Patau Syndrome 47,13+

1:19,000

Trisomy Involves the Addition of a Chromosome to a Diploid Genome

Edwards Syndrome 47,18+

1:8,000

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.

8.3 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants…

But very rare in animals or humans.

Full report here

8.3 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants

Autopolyploidy

Allopolyploidy

Endopolyploidy

8.4 Variation Occurs in the Internal Composition and Arrangement of Chromosomes

8.5 A Deletion Is a Missing Region of a Chromosome

Cri du chat Syndrome in Humans

Segmental deletion

Drosophila Heterozygous for Deficiencies May Exhibit Pseudodominance

8.6 A Duplication Is a Repeated Segment of the Genetic Material

Gene Xeroxing

Gene Copy Number Variants

Science (2007) 317:1315-1317

Gene Redundancy and Amplification: Ribosomal RNA Genes

The Bar-Eye Mutation in Drosophila

The Role of Gene Duplication in Evolution

8.7 Inversions Rearrange the Linear Gene Sequence

Consequences of Inversions during Gamete Formation

Position Effects of Inversions

Evolutionary Advantages of Inversions

8.8 Translocations Alter the Location of Chromosomal Segments in the Genome

Translocations in Humans: Familial Down Syndrome

8.9 Fragile Sites in Humans Are Susceptible to Chromosome Breakage

Fragile X Syndrome (Martin–Bell Syndrome)

Copyright © 2009 Pearson Education, Inc. Chapter 8 Lecture Concepts of Genetics Tenth Edition...

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