CAS BI 206 Chapter Notes - Chapter 13: Homologous Chromosome, Gene Dosage, Centromere

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Chapter 13: chromosomal rearrangements & changes in chromosome. Syntenic segments identity, order, & transcriptional direction of genes are the same on two different genomes. Deletions remove 1+ contiguous pairs of dna from chromosome. Large deletions easier to detect because they are more likely to affect multiple genes. Large enough deletions are visible in karyotyping. Being homozygous for deletions can be deadly or have no effect (ex: red pigment in drosophila eyes) genes on other. Deletion heterozygote organism with large deletion on one chromosome but intact. Gene dosage number of times gene is present in cell. Genetic imbalance imbalanced amount of protein in cell; effects can range from small. Single copy of gene a mutation can be more detrimental as there will be no functional changes to lethal copies. Deletion loop bulge of normal chromosome corresponding to delete portion of homolog. Pseudodominance deletion leads to recessive phenotype showing with only one allele. Duplications increase number of copies of chromosomal region.

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