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Ch. 12.1: DNA stores Information Objectives: 1. Describe how DNA is packed within the nucleus. 2. Explain the significance of the Human Genome Project. Vocab: Genome Histone DNA Structure Review Genome: Complete set of genetic material in an organism (order of bases). Can fit into nucleus b/c of packing system. Coiled around proteins (spools): HISTONES Coiled are coiled into helical fiber to make CHROMOSOME Human Genome Project Goal: Determine … 1. Sequence of bases in the human genome. 2. Sequences code for proteins (exons). 3. Function of resulting proteins. Began in 1990 1st Draft completed in 2000 Government funded agency cooperated w/ private companies Results published on web and available to scientists. 12.2: Chromosomal Disorders Objectives: 1. Relate Down syndrome and non-separation of chromosomes. 2. Describe how chromosomes can be damaged. 3. Explain how a “jumping gene” can affect other genes. Vocab.: Trisomy Down syndrome Non-disjunction Duplication Insertion Deletion Inversion Translocation Transposon Non-disjunction Homologous chromosomes or sister chromatids fail to separate during meiosis. Result: Gametes with abnormal # of chromosomes… Offspring with abnormal # of offspring Non-disjunction Most embryos with abnormal chromosome # result in miscarriage. Cause: Random Increased risk with age (35 +) Trisomy Having 3 of a particular chromosome. Examples - Chromosome # = 47 Trisomy 21: Down syndrome 1 in 700 births Most common Cognitive and physical impairments Trisomy 18: Edwards syndrome (more lethal) Trisomies & Maternal Age Pre-egg cells in girls have gone through Meiosis I. Meiosis II happens b4 ovulation. Longer time lag = increase chance of nondisjunction Trisomies of Sex Chromosomes XXX Female XXY: Klinefelter Male XYY: Male Turner’s Syndrome XO Female 45 Chromosomes Chromosomal Duplications Part of a chromosome is repeated. Vary from fatal to developmental abnormalities. Chromosomal Deletions Part of a chromosome is deleted. Very serious damage Ex: Williams Syndrome http://abcnews.go.com/2020/video/williams-syndrome-children-friend-health-disease-hospital-doctors-13817012 Partial deletion of chromosome 7 Chromosome Inversion Fragment breaks and reverses on the same chromosome. Not as lethal. Chromosome Translocation Fragment of one chromosome attaches to ANOTHER, DIFFERENT chromosome. If there is an UNEQUAL swap of segments, results can serious. • • List of Chromosome Disorders http://www.netnet.net/mums/mum_chro.htm Transposons: Jumping Genes Discovered by Barbara McClintock Experimented w/ corn; Jumping genes interfered w/ corn pigments. • • List of Chromosome Disorders http://www.netnet.net/mums/mum_chro.htm Transposons Single genes that can move around. “Jump” from one chromosome to another. If they insert in the middle of an existing gene, that gene will be disrupted.