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GENETICS ESSENTIAL QUESTIONS: What is genetics? What did Gregor Mendel’s experiments discover about variations? Genetics-science of heredity Heredity- study of the way in which traits are passed on from parents to offspring Traits-characteristics. Exs. Hair and eye color. History of Genetics: In 1857, Gregor Mendel, an Austrian monk conducted 8 years of experiments on pea plants. As a result of his experiments, a set of basic principles of heredity was established. Mendel is known as the founder of genetics. Mendel proposed that characteristics were inherited as result of the transmission of hereditary factors (genes). Genes Genes-1. Composed of DNA. 2. Located at permanent locations on chromosomes 3. Each chromosome may contain 100’s of genes. Essential Question: What is an allele? Allele- pair of genes that carry the same trait and are found at the same location on pairs of homologous chromosomes Alleles ESSENTIAL QUESTIONS: What are dominant and recessive alleles? How does the allele affect the phenotype of an individual? Gregor Mendel Crossed tall pea plants with short pea plants (parental generation). All the offspring (first filial generation-F1) were tall. Later crossed F1 generation and discovered ¾ tall and ¼ short 9 produced over 1000 plants). Used 7 contrasting traits. Pea Characteristitics Based on Mendel’s work, scientists have come up with the Law of Dominance. Law of Dominance- The allele that appears or shows up in an individual with two different alleles. Ex. ESSENTIAL QUESTIONS: What are dominant and recessive alleles? How does the allele affect the phenotype of an individual? Basics of Genetics: Dominate Allele-a. The allele that is expressed (shown) in an allelic pair b. Expressed by a capital letter. Recessive Allele- a. The gene that is present but not expressed in an allelic pair. Ex. Tt b. Expressed by a lower case letter. Essential Question: What is a genotype and a phenotype? Genotype-genetic makeup Phenotype-physical appearance Homozygous (pure)-two alleles for the same trait are the same. Exs. TT, tt Heterozygous (hybrid)-two alleles for the same trait are different. Ex. Tt ESSENTIAL QUESTION: What is incomplete dominance and Co-dominance? Incomplete Dominance- a. There are no dominant and recessive alleles b. There is a blending of traits. Roan Cow Co-Dominance-a. Involves the expression of two dominant alleles. b. Results in expression of both alleles in a heterozygous individual. • Others examples include: Blood groups and Sickle Cell Anemia ESSENTIAL QUESTIONS: What are sex-linked traits? What are some diseases associated with sex-linked traits? Sex-Linked-Traits-a. Defective portion of the gene is found “linked” (on) the X chromosome. b. Exs. Color blindness, Hemophilia, Duchene Muscular Dystrophy (disease that slowly destroys the muscles). ESSENTIAL QUESTIONS: What are sex-linked traits? What are some diseases associated with sex-linked traits? Genetically Related Diseases Phenylketonuria (PKU)-a. Recessive disorder Absence of the enzyme that converts phenylalaninetyrosine (A.A.) Accumulation of phenylalanine causes mental retardation Testing at birth and then the limit amount of phenylalanine. Punnet Square Sickle-Cell Anemia: a. Caused by a mutation of a gene that controls synthesis of hemoglobin (one amino acid is substituted for another at one point in the hemoglobin molecule). b. Mutant gene is recessive c. Pain, weakness, and anemia d. Heterozygous for sickle cell makes an individual resistant to malaria. Sickle-Cell Anemia Sex-Linkage Tay-Sachs-a. Recessive gene b. Results in the absence of an enzyme that breaks down lipids .Lipids are produced and stored it the CNS. c. Blindness, paralysis and death by the age of 3. Cystic Fibrosis (CF))-a. Recessive gene (3 missing nucleotides). b. Most common genetic disorder in White Americans. 1/25 carry recessive gene, 1/2000 children have CF. C. Formation and accumulation of thick mucus in the lungs and in the digestive system. ESSENTIAL QUESTIONS: What is a karyotype ? What is its role in genetic screening? IV. Techniques for Detecting Genetics Defects: Amniocentesis-amniotic fluid is withdrawn during pregnancy and examined for the presence of certain substances. Essential Question: What is the process of amniocentesis? Karyotyping: Karyotype- a. Enlarged photograph of the pair so homologous chromosome (during mitosis). b. Shows abnormal chromosomes or abnormal chromosome number. c. Down’s Syndrome can be identified by this technique. Down’s syndrome Down’s Syndrome Essential Questions: What is a pedigree chart? How can is be used to detect the probability of a trait or a disease ? Screening-a. Analysis of body fluids (blood, urine) to detect presence of certain enzymes of cellular products. Pedigree Charts-a. Chart used to trace the occurrence of a disease or trait in past generations. b. Based on this chart, prediction can be made about the probabilities of this trait appearing in the future generations. c. Uses symbols: Pedigree Chart Pedigree Square-male Circle-female Half shaded symbolcarrier Fully shaded symbolhas the disease ESSENTIAL QUESTIONS: What is genetic engineering? What is gene splicing? What is recombinant DNA? How will the field of genetic engineering affect the future of medicine? Genetic Engineering: Biotechnology-a. application of technology to biological science. b. Includes selective breeding and genetic engineering. Selective breedinga. Process that produces domestic animals and varieties of plants with traits that are desirable. b. Exs.: Animals with less fat, fruits and vegetables that are larger, sweeter, and hardier. Genetic Engineeringa. New technology that alters the genetic code. b. Removing genes from an organism and adding them to the genes of different organism. Resulting in a changed genetic code. Transgenic Organismsorganisms that contains foreign DNA. Ex. Glowing tobacco plant Recombinant DNA Tools of Genetic Engineering: Restriction Enzymes-enzymes that cut DNA in very specific places A large number of restriction enzymes cut the two strands of DNA molecules at slightly different places. Short, single-stranded leftover pieces of DNA remain are the cut ends. These DNA fragments are said to have “sticky ends” because of their unpaired bases. Gene Splicing-adding or gluing pieces of DNA from an organism to another of the sticky ends. Vectors a. Organisms that move the recombinant DNA from one organism to another organism. Bacteria- a. contains a circular piece of DNA called a plasmid. b. By splicing a foreign gene into a plasmid. A scientist can transport the gene to a new bacterial cell. c. This technique and vectors are used to produce insulin, tomatoes that don’t become overripe. Genetic Engineering Gene Therapy Gene Therapya. Giving normal genes to a person in order to treat a genetic disorder. Ex. Parkinson’s b. Not very successful. How do we turn off the genes? Turning on Genes