MODULE 1 – INTRODUCTION TO GENETICS & CYTOGENETICS
Page 1: Introduction
Genetics for Dentistry
Title: "Genetics: An Introduction: History, Cytogenetics, and State of Science in the Field"
Instructor: Clint Daryll Suarez
Page 2: Topics to Be Discussed
Key Terms
History of Genetics
History of Cytogenetics
Genetics and Cytogenetics
Development
Page 3: Key Terms (Hartl, 2020)
Genetics: Study of biologically inherited traits, influenced by the environment.
Genomics: Study of all genes in an organism to understand their organization, function, interaction, and evolutionary history.
Page 4: Key Terms (Kannan & Zilfalil, 2009)
Cytogenetics: Study of the structure and properties of chromosomes, behavior during somatic cell division (mitosis) and germ cell division (meiosis), and influence on phenotype.
Page 5: Chromatin Structure
Nucleosomes: Basic units of DNA packaging.
Chromosomes are formed by super-coiling DNA and histones.
Deoxyribonucleic acid (DNA): The genetic material of living organisms.
Page 6: History of Genetics
Overview of the development of genetic science.
Page 7: The Term "Gene"
Origin from Darwin (1868, 1871) and Hugo de Vries (1889): Concept of "pangenesis" — heritable information from gemmules aggregated in gonads contributing to offspring.
Greek origins: "Pan" (all, whole) and "genesis" (birth).
Page 8: The Term "Gene" (continued)
Wilhelm Johannsen introduced the term "gene" as the functional unit of heredity, derived from Greek origins meaning offspring and procreation.
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Page 10: Gregor Mendel (1856)
Recognized as the father of modern genetics.
Conducted experiments with garden peas and published findings on heritable elements in 1866, known as Mendelian genetics.
Page 11: Mendelian Genetics
Mendel's Laws of Inheritance:
Law of Dominance: Only dominant traits are expressed in the phenotype.
Law of Segregation: Two gene copies segregate to offspring - one inherited from each parent.
Law of Independent Assortment: Alleles segregate independently.
Page 12: Friedrich Miescher (1869)
Discovered nuclein (later identified as DNA) in the nuclei of salmon sperm and white blood cells.
Page 13: The DNA as the Molecule of Heredity
Structure: DNA is a double helix, right-handed, with antiparallel chains.
Polarity: 5' end (trunk) and 3' end (tail).
Page 14: Base Pairing in DNA
Adenine (A) pairs with Thymine (T) and Cytosine (C) pairs with Guanine (G).
Page 15: The DNA as the Molecule of Heredity (continued)
Martha Chase and Alfred Hershey's experiment (1952): Confirmed DNA as the genetic material.
Experiment 1 used radiolabeled proteins; no radioactivity entered cells.
Experiment 2 used radiolabeled DNA; radioactivity observed in cells, concluding DNA is the key genetic material.
Page 16: History of Cytogenetics
Summary of significant findings in cytogenetics over time.
Page 17: Carl Wilhelm von Nägeli (1842)
Described thread-like structures in plant cell nuclei; identified as chromosomes later.
Walther Flemming (1870): Observed chromosomal behavior during cell division.
Page 18: Walter Sutton and Theodor Boveri (1904)
Proposed the chromosome theory of heredity: Chromosomes occur in matched pairs, one from each parent.
Page 19: Joe Hin Tjio and Albert Levan (1956)
Confirmed humans possess 23 pairs (46 total) chromosomes, correcting previous estimates.
Page 20: Chromosome Per Species
Chromosome counts vary among species:
Amoeba: 12
Mosquito: 6
Drosophila: 8
Corn: 20
Dog: 78
Chimps: 48
Cat: 38
Horse: 64
Elephant: 56
Page 21: The Term "Genome"
Hans Winkler (1920) coined "genome" uniting the concepts of gene and chromosome - meaning "I become, I am born" in Greek.
Page 22: DNA and Genome
Genome: Complete set of DNA in an organism, made up of chromosomes and genes.
Page 23: The Human Genome Project (2003)
Completed in 2003, mapping 3.2 billion base pairs and 50,000-150,000 genes over 13 years.
Page 24: Genetics and Cytogenetics Developments
Current state of genetic science focusing on technological advancements and applications.
Page 25: Key Branches of Genetics
Areas of genetic study include:
Cytogenetics
Mendelian Genetics
Molecular Genetics
Plant & Animal Genetics
Microbial Genetics
Population Genetics
Page 26: Molecular Genetics
Covers DNA sequencing, assembly, gene annotations, and function.
Page 27: Molecular Genetics: DNA Extraction
Workflow for DNA sequencing outlined, including PCR and gel electrophoresis.
Page 28: Karyotyping
Karyotyping is the process of pairing and ordering chromosomes, including fluorescence in situ hybridization (FISH) to detect mutations.
Page 29: Questions?
Page 30: Conclusion
Recap of the content covered in the introduction to genetics.