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DNA and Genetics The Basics 7th Science Mr. Bombick Major DNA Subunit • Nucleotide contains a base, a sugar, and a phosphate • The four bases in DNA are Adenine (A), Thymine (T), Guanine (G), and Cytosine (C) DNA Structure • Each strand of the double stranded DNA is comprised of nucleotides connected by the phosphates • The double strand of DNA is held together by hydrogen bonding between complementary bases • A (adenine) is paired with T (thymine) • G (guanine) is paired with C (cytosine) DNA organization in the cell • One double strand of DNA is compacted within the nucleus by coiling around specific proteins to produce chromatin • Chromatin is further compacted into chromosomes Information contained in DNA • DNA contains many genes • Genes are sections of DNA that contain the code for proteins • One gene is responsible for one protein • Proteins are responsible for the different genetic traits in individuals DNA Mutations • A mutation is a change in a specific region of a gene • The mutation results in an alteration in the type of protein (or whether a protein is made at all) coded by the gene • Mutations can be caused by a variety of environmental or physiological factors DNA Replication • DNA is replicated just prior to when a non-sex cell undergoes cell division • The double-stranded DNA is split down the middle of the bases for a short length of the DNA • Nucleotides are inserted (with the appropriate base pairing) into the exposed single strand • Completion of replication results in two identical double-stranded DNA molecules Human Chromosome Organization • Humans have 23 pairs of chromosomes (46 chromosomes) • During non-germ cell division (mitosis) the 23 pairs of chromosomes are copied resulting in each of the two new cells having 23 pairs of chromosomes • During germ cell division (meiosis) each germ (sperm or egg) ends up with only 23 chromosomes • (use board to illustrate an example of differences resulting from mitosis and meiosis) Importance of Meiosis in Genetics • Meiosis results in each germ cell (egg or sperm) having half of the chromosomes of the normal cell (for humans this would be 23 chromosomes) • Fertilization (combination of egg and sperm) will result in the normal number of chromosomes in the cell (for humans this would be 46 chromosomes) • Therefore, half of the chromosomes will come from the male and half of the chromosomes will come from the female Basis of Genetics • Probability • Nature of the trait (gene or allele) • Behavior of chromosomes in the process of meiosis Movement of Chromosomes in Meiosis • Meiosis is a process by which the chromosome number is reduced by one-half of the typical number of chromosomes in a cell • Therefore, each germ cell (egg or sperm) contains one-half of the number of chromosomes • Fertilization will result in the normal number of chromosomes (for humans this equals 46) Segregation of Alleles • An allele is a form of a gene (a region of the chromosome that “codes” for a specific protein) • In a simple situation, two types of alleles might consist of dominant or recessive alleles • In meiosis the two alleles of the male or female end up segregated so only one allele is contained in the germ cell (egg or sperm) Types of Alleles • Simplest case is where alleles are dominant or recessive • Alleles also may be co-dominant where both alleles are expressed in the offspring (blood type is a typical example) • Alleles also may exhibit incomplete dominance (an example will follow later in this presentation) • Alleles may also be sex-linked where the alleles are on the sex chromosomes Important Genetic Terminology • Dominant Allele—results in the expression of this trait in the offspring • Recessive Allele—trait is only expressed in offspring if there are two recessive alleles • Heterozygous—presence of one dominant and one recessive allele • Homozygous—presence of two dominant or two recessive alleles • Phenotype—the resulting expression of the two alleles in the offspring • Genotype—the actual genetic composition of the two alleles in the offspring Punnett Square • Graphical way of predicting possible genetic outcomes (both genotypes and phenotypes) in offspring from parents • In a Punnett square the alleles from each parent are shown on the top and left side of the square • The possible genotypes are then calculated in the individual boxes in the Punnett square • Allows the calculation of ratios of genotypes and phenotypes of the offspring Examples of Punnett Squares (on the blackboard) • • • • • Example Example Example Example Example cross of a single trait cross of a cross with two traits of a sex-linked cross of co-dominant cross of incomplete dominant The End