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Chromosomes and Human Genetics

Chromosomes

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Chromosomes and Human Genetics

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    1. Chromosomes and Human Genetics Chapter 12

    2. Chromosomes & Cancer Some genes on chromosomes control cell growth and division If something affects chromosome structure at or near these loci, cell division may spiral out of control (no brakes at G1) This can lead to cancer

    3. Philadelphia Chromosome First abnormal chromosome to be associated with a cancer Reciprocal translocation (more on this later) Causes chronic myelogenous leukemia (CML) Video: Gene Therapy to treat Cancer

    4. Genes Units of information about heritable traits In eukaryotes, distributed among chromosomes Each has a particular locus Location on a chromosome

    5. Homologous Chromosomes Homologous autosomes (all chromosomes other than those that determine sex (X, Y) are identical in length, size, shape, and gene sequence Sex chromosomes are nonidentical but still homologous Homologous chromosomes interact, then segregate from one another during meiosis

    6. Alleles Different molecular forms of a gene Arise through mutation Diploid cell has a pair of alleles at each locus Alleles on homologous chromosomes may be same or different

    7. Sex Chromosomes Discovered in late 1800s Mammals, fruit flies XX is female, XY is male Human X and Y chromosomes function as homologues during meiosis

    8. Karyotype Preparation - Stopping the Cycle Cultured cells are arrested at metaphase by adding colchicine This is when cells are most condensed and easiest to identify

    9. Karyotype Preparation Arrested cells are broken open Metaphase chromosomes are fixed and stained Chromosomes are photographed through microscope Photograph of chromosomes is cut up and arranged to form karyotype diagram

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