BIOL239 Lecture Notes - Lecture 11: Chromosomal Inversion, Fragile X Syndrome, Inverted Repeat

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Week 11: chromosomal rearrangements, transposable elements, and dna analysis. Homozygosity for gene deletions is often (but no always) lethal (loss of both alleles) Heterozygosity for gene deletions is often detrimental (loss of one allele) Gene dosage: the number of times any given gene is present in the genome. Deletion of an entire gene (or even a segment) results in a single dose of that gene product (protein) in an otherwise diploid individual (who normally relies on 2 doses). Increase of a gene can lead to too much of the gene product (protein). Cri-du-chat syndrome: deletion on the short arm of c5 (an acrocentric chromosome) Acrocentric chromosomes have centromeres that are located closer to one end of the chromosome. Increase the copy number of a particular chromosomal region. Tandem duplications: lie adjacent to each other, either in the same order or in reverse order.

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