PierceGenetics6e_ch08_Blackboard.ppt

PierceGenetics6e_ch08_Blackboard.ppt - Benjamin A Pierce...

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GENETICS A Conceptual Approach SIXTH EDITION GENETICS A Conceptual Approach SIXTH EDITION Benjamin A. Pierce CHAPTER 8 Chromosome Variation © 2017 W. H. Freeman and Company
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8.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids Chromosome morphology (position of the centromere on the chromosome): Metacentric Submetacentric Acrocentric Telocentric
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8.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids Karyotyping Chromosomes prepared from actively dividing cells Halted in metaphase Chromosomes arranged according to size Banding G bands: Giemsa stain Q bands: quinacrine mustard C bands: centromeric heterochromatin R bands: rich in cytosine-guanine base pairs
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Types of chromosome mutations: – Rearrangements: • Aneuploidy • Polyploidy 8.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids
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8.2 Chromosome Rearrangements Alter Chromosome Structure Four types of chromosomal rearrangements: Fig. 8.4 Duplication: Fig. 8.5, Fig. 8.6, Fig. 8.7 Unbalanced gene dosage: Fig. 8.8
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8.2 Chromosome Rearrangements Alter Chromosome Structure Deletions: loss of a chromosomal segment Large deletions easily detected; during pairing, normal chromosome loops out (Fig. 8.9) Effects of deletions Imbalances in gene product Expression of a normally recessive gene (pseudodominance) Haploinsufficiency
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TABLE 8.1 Effects of some human chromosome rearrangements Type of Rearrangeme nt Chromosom e Disorder Symptoms Duplication 4, short arm Small head, short neck, low hairline, reduced growth, and intellectual disability Duplication 4, long arm Small head, sloping forehead, hand abnormalities Duplication 7, long arm Delayed development, asymmetry of the head, fuzzy scalp, small nose, low-set ears Duplication 9, short arm Characteristic facial features, variable intellectual disability, high and broad forehead, hand abnormalities Deletion 5, short arm Cri-du-chat syndrome Small head, distinctive cry, widely spaced eyes, round face, intellectual disability Deletion 4, short arm Wolf–Hirschhorn syndrome
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