Lecture Notes 19 - Biosc 0350 Genetics Lecture 19...

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Biosc 0350 Genetics Lecture 19 - Chromosomal mutations Changes in chromosome structure • deletions • duplications - tandem vs dispersed • inversions - paracentric vs pericentric • reciprocal translocation Changes in chromosome number • nondisjunction
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3/25/08 Martens. Biosc 0350, University of Pittsburgh 2 Hartwell et al., 3rd ed. Table 14.1
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3/25/08 Martens. Biosc 0350, University of Pittsburgh 3 Overview of chromosome mutations represent blocks of multiple genes
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3/25/08 Martens. Biosc 0350, University of Pittsburgh 4 Deletions result in loss of DNA Breakage and rejoining Crossing-over between repetitive DNA
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3/25/08 Martens. Biosc 0350, University of Pittsburgh 5 Deletions Heterozygous deletions can be detrimental ? In humans more than ~3% of genome is usually lethal • cri du chat syndrome (small deletion of chromosome 5) Heterozygous deletions affect mapping distances Can be useful genetic tool • “uncover” genes - complementation test using deletions Meiotic chromosome of heterozygote Homozygous deletions are often lethal Hartwell et al., 3rd ed.
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