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what is a gene.docx

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Bhagwati Gupta

September 9 , 2013 Biology 2C03: Genetics What is a Gene? Model Organisms - E. coli - Yeast - Worms - Arabodopsis - Fruitflie - Mouse What is a Gene? - Define, recognize, describe and apply Mendel’s first principle - Develop a useful definition for a gene - Distinguish genotype and phenotype - Solve genetic problems relating to monohybrid crosses - Interpret pedigrees - Use the rules of probability to determine genotypic and phenotypic proportions - Distinguish between complete, incomplete and co-dominance - Determine dominance relationships at different phenotypic levels Why Study Genetics? - Genetics plays a critical role in understanding disease  Single gene: sickle cell or Huntingtons  Complex genes: heart disease, diabetes, multiple genes which increase or decrease the risk of developing disease and is associated with environmental influences - Genetics improves agricultural practices - Genetics used biotechnology industry for drug design, development, and production  Bacteria and fungi produce antibiotics Ted Talk - 99.9% identical - Sequence the entire human genome - Access to genetic information - First attempt at creating a synthetic organism from a genome Fundamental Concepts Review - A gene is the fundamental unit of heredity  Unit of information that encodes a genetic characteristic - Genes come in multiple forms called alleles - Genotype confers phenotype  Phenotype is manifestation of the genotype - Genetic information is carried in DNA  Can also be carried in RNA, for example, influenza - Genes are located on chromosomes - Genetic information is transferred from DNA to RNA to protein  Genetic information can also be carried in RNA Basic Principles of Heredity - Gregor Johann Mendel discovered basic principles of heredity - Principle of segregation and independent assortment The Pea Plant Pisium sativum - Easy cultivate  Complete generation single growing season - Produce many offspring  Enabled calculation meaningful mathematical ratios - Several traits existed 2 easily distinguished forms  Multiple phenotypes  Shows that it is not specific for only one phenotype Genetic Terminology - Gene: a genetic factor (region of DNA) that helps determine a characteristic - Allele: one of two or more alternative forms of a gene - Locus: specific place on a chromosome occupied by an allele - Genotype: set of alleles possessed by an individual organism - Heterozygote: an individual organism possessing two different alleles at a locus - Homozygote: an individual organism possessing two of the same alleles at a locus - Phenotype or trait: the appearance or manifestation of a character - Character or characteristic: an attribute or feature Case Study: Sickle Cell Disease - Walter Noel: sickle cell proband – first individual described to have these symptoms - Symptoms: Severe anemia, debilitating muscle pain, respiratory problems - Admitted hospital 1904 under care of intern Dr. Ernest Irons and supervising physician Dr. James Herrick - Performed blood smear as part of diagnostic attempts - Red bloods cells were pear shaped, flat, and were found in low density - 1940s inheritance pattern and physical chemistry of haemoglobin S were understood - Renowned scientist Linus Pauling called sickle cell anemia “the first molecular disease” - Blood smear under the microscope  Normal: round, and numerous  Sample from Noel: flat, fewer, and pear-shaped, half-life is shorter therefore there are less RBCs Cellular Phenotype - Abnormal: curved and flat Sickle Cell Anemia or Sickle Cell Disease is Hereditary -
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