GN 301 Module 1: Introduction to Genetics

Genetics and Society

==Genetics== is a “coming into being” or “developing the self.” It comes from the word “Genesis” or “to generate.”

  • It is the study of heredity, which is the transmission of characteristics (genes) to future generations. \n
List several areas where Genetics is important in society:
  • The news
  • Medicine
  • Epigenetics
  • Agriculture
  • Pest management
  • DNA sequence analysis bioinformatics
  • Gene editing and gene therapy

Vocabulary

  • Allele: a form of a gene (there are two possible variations)
  • Phenotype: the actual appearance of an individual for a particular trait
  • Genotype: the combination of alleles that an individual has for a given gene
  • Homozygous: the two alleles for a given trait are the same
  • Heterozygous: the two alleles for a given trait are different
  • Dominant: an allele that is physically seen in a heterozygous individual
  • Recessive: an allele that is not physically seen in a heterozygous individual

Genetic Disorders

  • ==Osteogenesis imperfect:==
    • A dominant mutation with variable effects that may include
    • multiple bone fractures
    • decreased mobility
  • ==Marfan Syndrome:==
    • A dominant mutation that only requires one allele of the mutation to have it.
    • People affected have long limbs.
    • A famous person affected by the disorder was Flo Hyman, who died of heart complications.
    • The disease weakens your aorta, which makes you bleed easily.
  • ==Sickle Cell Anemia:==
    • A recessive mutation where an individual’s blood cells are sickled instead of smooth and round.
    • The blood cells get stuck in the capillaries.
    • 2 mutated alleles are required for this genetic disorder, which is most common in people of African descent.
  • ==Cystic Fibrosis:==
    • A recessive mutation that causes thick mucus to accumulate in the lungs, leading to respiratory infections and breathing difficulties.
    • It occurs in a gene on Chromosome #7 and is common in those of European descent.
    • Genetic testing is available.
    • Gunnar Esiason is a famous example of someone who has the mutation.
  • ==Xeroderma Pigmentosum (XP):==
    • A recessive mutation that causes excessive sensitivity to UV light.
    • Persons affected must have two alleles of the gene to have the disease.
    • They can get many small tumors on their body that look like freckles but is actually skin cancer.

Karyotype

Karyotype: An organized array of a cell’s chromosomes. This includes sex and non-sex chromosomes.