Chap 1 An Introduction to Genetics

DNA_double_helix.html: 01_08-DNA_double_helix.jpg
DNA has a double helix structure. Each strand is made of subunits called nucleotides. Each nucleotide is made of a sugar (deoxyribose), a phosphate group, and a nitrogenous base which is either Adenine (A), Guanine (G), Cytosine (C), or Thymine (T). The bases form complementary AT and GC pairs across the helix.

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Glass plates in a DNA microarray contains thousands of fields to which DNA molecules are attached. DNA from an individual can be tested using to detect mutant copies of genes.

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Dolly was cloned in 1996 from a mammary cell taken from a Finnish Dorset sheep by nuclear transfer. Dolly may have been susceptible to premature aging, but she did grow to adulthood and gave birth to a little lamb - Bonnie.

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Biotechnology has been used to produce genetically modified (GM) crop plants for increased herbicide, insect, and viral resistance, as well as for nutritional enhancement.

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A virus that infects an bacterium such as Escherichia coli is called a bacteriophage, or phage. Here a T phage infects an E. coli cell; the protein coat remains outside the cell, while its DNA genome enters the cell and directs the reproduction of more phages.

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Colorized image of human mitotic chromosomes as seen with a scanning electron microscope. A complete complement of visualized chromosomes for an individual is called a karyotype.

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Cloning a recombinant gene.

A vector, such as a virus or plasmid, and a DNA fragment produced by cutting with a restriction enzyme are joined to produce a recombinant DNA molecule that is transferred to a bacterial cell.

The desired recombinant DNA is cloned into many copies by replication of the DNA and by division of the bacterial cell.

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The genome of the fruit fly Drosophila melanogaster was sequenced in 2000.

D. melanogaster has 4 pairs of chromosomes; chromosome 1 are the sex chromosomes. Shown here is the X chromosome (chromosome 1).

As in humans, females have two X chromosomes and males have one X and one Y chromosome.

In humans, presence of the Y chromosome determines the male sex. Thus, XO (missing a Y) individuals are females.

In Drosophila, sex determination is achieved by a balance of female determinants on the X chromosome and male determinants on the autosomes (non-sex chromosomes), and an XO individual is female.

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Top: the mutant white eyes of Drosophila melanogaster.
Bottom: the normal (wild type) red eyes.

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Central dogma of genetics.

Gene expression involves transcription of DNA into mRNA, followed by translation of mRNA on a ribosome into a protein, which is made of amino acid subunits.

The translation requires a dictionary, or genetic code.

  • RNA is similar to DNA except:
  • it has Uracil (U) in place of Thymine (T).

  • the sugar in its nucleotides is ribose instead of deoxyribose.

    genome.html: 01_15-genome.jpg
    A colorized electron micrograph of Haemophilus influenzae, a bacterium that was the first free-living organism to have its genome sequenced, in 1995.

    This bacterium causes respiratory infections and bacterial meningitis (inflammation of the protective membranes of the brain) in humans.

    hemoglobin.html: 01_11-hemoglobin.jpg
    A hemoglobin (the oxygen-carrying molecule in red blood cells) is composed of 2 kinds of protein chains. Two α (alpha) globin and two β (beta) globin chains make up the molecule. A mutation (change in DNA) in the gene for the beta chain produces abnormal hemoglobin molecules in sickle cell anemia.

    human_chromosomes.html: 01_18-human_chromosomes.jpg
    Diagram of the human chromosome set, showing the location of some genes whose mutant forms can cause hereditary diseases.

    Conditions that can be diagnosed using DNA analysis are indicated by a red dot.

    karyotype.html: 01_03-human_karyotype.jpg
    This is a human male karyotype, a display of condensed chromosomes arranged in pairs. Each chromosome consists of two sister chromatids joined at a centromere. Humans possess 23 pairs of chromosomes: one member of a pair is derived from each parent. 22 pairs are homologous and contain the same genes; the other 2 are sex-determining chromosomes: females are XX and males are XY.

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    Model organisms for genetic study are easy to grow, have a short life cycle, and produce many offspring. Model organisms include the roundworm Caenorhabditis elegans and the zebrafish.

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    A protein is a sequence of 20 different kinds of amino acids. In this model, the three-dimensional shape, or conformation, of a protein is shown as a ribbon.

    sickle_cell_anemia.html: 01_13-sickle_cell_anemia.jpg
    The sickle cell mutation causes the hemoglobin molecule to form long chains when oxygen levels are low, producing sickled red blood cells (RBC).

    The sickled RBC block capillaries and small blood vessels, causing damage to organs.

    The sickled RBC also break easily, leading to reduced oxygen carrying capacity of the blood, or anemia.

    sickle_cell_mutation.html: 01_12-sickle_cell_mutation.jpg
    A single nucleotide change (mutation) in the DNA encoding the beta globin gene (CTC -> CAC) leads to an altered mRNA codon (GAG -> GUG). The resulting change in the amino acid (glu -> val) produces a mutant beta globin, causing sickle cell anemia.

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    Mice from the onc strain were the first genetically altered organisms to be patented in 1988. These mice were genetically engineered to be susceptible to many forms of cancer for studying cancer development and the design of anticancer drugs.