Lecture 13a Deletions Duplication

Lecture 13a Deletions Duplication - Chromosomal...

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Unformatted text preview: Chromosomal Rearrangements Learning Objectives 1. Explain how deletions, insertions, duplications, inversions, and translocations can alter gene function and phenotype 2. Explain how chromosomal rearrangements can be detected experimentally Rearrangements of DNA sequences within and between chromosomes Deletions Duplications Inversions Translocations Movements of transposable elements Deletions remove genetic material from genome. Causes Errors in chromosomal crossover during meiosis DNA breakage by Xrays, etc. Fig. 14.2 Phenotypic consequences of heterozygosity Wildtype Heterozygosity for deletion is often detrimental. Homozygosity for deletion is often but not always lethal. Fig. 14.3 +/+ Del/+ Del/Del Change in Gene dosage can create a genetic imbalance Deletions can be detected by PCR Fig. 14.2 Loss of heterozygosity (LOH) studies indicate that...
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Lecture 13a Deletions Duplication - Chromosomal...

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