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Chromosomal Mutations Chromosome structure Variation in Chromosome structure • Duplication • Deletions • Inversions • Translocations Change in Chromosome number and sets

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Page 1: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Chromosomal Mutations• Chromosome structure

• Variation in Chromosome structure• Duplication • Deletions • Inversions • Translocations

• Change in Chromosome number and sets

Page 2: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Chromosome structure

• Human Karyotype• Groups A-G • P and q arms • centromere location • banding patterns

Page 3: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Karyotypes

Page 4: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Variation in Chromosome structure

Page 5: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Duplication

Page 6: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Deletions

• terminal • intercalary

• Pseudodominance

Page 7: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Cri cu chat

Page 8: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Inversions

Page 9: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

InversionsParacentric inversion Pericentric inversion

Page 10: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Inversions

• Suppression of recombinant recovery• Maintenance of a set of specific alleles at

adjacent loci• Can lead to evolutionary advantage

Page 11: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Translocations

Page 12: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Meiosis

Page 13: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Familial Down syndrome

Page 14: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Change in Chromosome number and sets

• Aneuploidy• Non-disjunction • Monosomy• Trisomy• Sex-chromosomes • Polyploidy

Page 15: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Non-Disjunction

Page 16: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Monosomy & Trisomy

Page 17: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Trisomy and Triploid

Page 18: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Monosomy & Trisomy

Page 19: Chromosomal Mutations - WOU Homepage - Western …guralnl/311Chromosomal Mutations.pdf · Chromosomal Mutations • Chromosome structure • Variation in Chromosome structure •

Polyploidy

Multiples of samegenome

Multiples of Different genomes