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Download Ch. 12 .1 12.2 Human Genetics Notes
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CH. 12 HUMAN GENETICS Pp 248 GENOME: 12.1 An organism’s complete set of genetic material. Fits into the nucleus- compact packing of DNA DNA wraps around proteins called histones. Tight helical, supercoil. Human Genome Project Government funded Joint venture with industry Sequenced human genome Computer database Completed 2000 CHROMOSOME DISORDERS 12.2 Normal human karytoype (picture of a person’s chromosomes)- 46, in 23 pairs. Nondisjuction- unequal separation of chromosomes into gametes during meiosis. anaphase of meiosis I or II results in gametes with abnormal numbers of chromosomes. Example- Trisomy - an extra chromosome Worse in Meiosis I- all gametes have abnormal numbers of chromosomes. In meiosis II- two normal gametes and two abnormal gametes. See figure 12-4- pg 251. Most embryos with abnormal chromosome numbersmiscarriage. Figure 12-4 Nondisjunction in meiosis I results in all the gametes having abnormal numbers of chromosomes. Nondisjunction in meiosis II results in two normal gametes and two abnormal gametes. (Note that for simplicity only two pairs of homologous chromosomes are shown rather than all 23 pairs.) TRISOMY 21 Down’s syndromeExtra #21 chromosome. Embryos survive. Symptoms Facial features Forehead, slanted eyes Shorter height Heart defects * Degrees of mental disability Impaired immune system Increases with age of mother Hypothesis- lag in meiosis-may cause errors of nondisjunction CHROMOSOME STRUCTURE CHANGES Duplication – repeat of part of the chromosome. Delection- part of chromosome is lost. Very severe- loss of genes that code for proteins. Inversion- chromosome part is reversed. Not always fatal- developmental abnormalities. Least severe- since all genes are present. Translocation- a chromosome part attaches to another chromosome. See figure 12-6 pg 252 Figure 12-6 Changes to a chromosome's structure may lead to various human disorders. Part of the chromosome may be duplicated, deleted, inverted, or translocated to another chromosome. JUMPING GENES: Transposons Different from chromosome structure changes. One gene can move from one place to another in a chromosome. Can disrupt another gene and its protein. Found in all organisms including humans. Provides diversity Example- color in corn- spotted corn. Discovered by Barbara McClintock.