Lecture 19(1) - HMB265 Human General Genetics Lecture 19...

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HMB265: Human & General Genetics Lecture 19: Changes in Chromosome Structure Prof. Maria Papaconstantinou
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Lecture Outline Deletions Duplications Inversions Translocations Reading: Griffiths et al ., 10 th edition, Chapter 17 ( emphasis on pages 606-622 ).
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Chromosomal mutations
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Polytene chromosomes used to study changes in chromosome structure from Russell (2009) iGenetics See Figure 17-20b in Griffiths
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Deletions Hartwell et al. (2007) Genetics: From Genes to Genomes Intragenic : small deletion within gene Multigenic: many genes deleted Del ( Df ) homozygotes usually inviable • Gene imbalance in Del heterozygotes (might result in haploinsufficiency)
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Hartwell et al. (2007) Genetics: From Genes to Genomes See Figure 17-20a in Griffiths Deletion loop
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Pseudodominance Deletions can be used to locate genes = mapping Hartwell et al. (2007) Genetics: From Genes to Genomes
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Deletion mapping: Complementation Hartwell et al. (2007) Genetics: From Genes to Genomes Complementation tests: Del mutants X mutant genes Del heterozygote reveals location of mutant gene See Figure 17-21 in Griffiths
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This note was uploaded on 04/03/2012 for the course HMB 265 taught by Professor French during the Fall '09 term at University of Toronto.

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Lecture 19(1) - HMB265 Human General Genetics Lecture 19...

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