Biology 1202B Study Guide - Final Guide: Haplotype, Encode, Y Chromosome

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Document Summary

Essential outcomes human genomics and genetic disease: describe the difference between a chromosome spread and a karyotype. A karyotype is a characteristic of a species consisting of the shapes and sizes of the chromosomes of metaphase. A chromosome spread is when chromosomes and nuclei are released from cells and are spread on a glass microscope slide: explain what type of genetic alterations can be detected by karyotype analysis. A genome is the entire collection of dna sequence for a given organism. Prior to the human genome project, scientists tried to refine the technology by sequencing model organisms and smaller organism genomes. This helped to provide a point of reference in relation to other genomes. The finished genome sequence still has gaps, which are composed of heterochromatic and repetitive dna. Because these regions are near centromeres and telomeres, these are often difficult to sequence. They found adjacent snps to form a haplotype. Blocks of dna tend to get inherited together.