BIOTECH (MUTATIONS)

• Neutral mutations


  Mutations that have neither negative nor positive effects on the organism in which they occur
• Neutral mutations


  • Silent point mutations
• Neutral mutations do not change the amino acids in the proteins they encode
• Cells have multiple repair mechanisms to fix mutations in DNA
• Beneficial mutations


  Mutations that have a positive effect on the organism in which they occur
• Beneficial mutations lead to new versions of proteins that help organisms adapt to changes in their environment
• Beneficial mutations are essential for evolution to occur
• Beneficial mutations increase an organism's chances of surviving or reproducing, so they are likely to become more common over time
• Beneficial mutations


  • Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs
  • A unique mutation found in people in a small town in Italy that protects them from developing atherosclerosis
• Making a random change in a complicated machine

  The chance that the random change would improve the functioning of the machine is very small
• Any random change in a gene's DNA

  Is likely to result in a protein that does not function normally or may not function at all
• Harmful mutations


  Mutations that may cause genetic disorders or cancer
• Genetic disorder


  A disease caused by a mutation in one or a few genes
• Cancer


  A disease in which cells grow out of control and form abnormal masses of cells, generally caused by mutations in genes that regulate the cell cycle
• Cancer genes can be inherited
• Genetic disorder


  A disease caused in whole or in part by a change in the DNA sequence away from the normal sequence
• Genetic abnormality


  • Can range from minuscule to major, from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality
• Causes of genetic disorders


  • Mutation in one gene
  • Mutations in multiple genes
  • Combination of gene mutations and environmental factors
  • Damage to chromosomes
• Nearly all diseases have a genetic component
• Types of genetic diseases


  • Single gene
  • Multifactorial inheritance
  • Chromosome abnormalities
  • Mitochondrial inheritance
• Single gene inheritance


  Also called Mendelian or monogenetic inheritance, changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance
• Patterns of single gene inheritance


  • Autosomal dominant
  • Autosomal recessive
  • X-linked dominant
  • X-linked recessive
• The life you have now, living with a good DNA sequence is a priceless gift from the Creator
• Genetic disorder


  A disease caused in whole or in part by a change in the DNA sequence away from the normal sequence
• Genetic abnormality


  • Can range from minuscule to major, from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality
• Causes of genetic disorders


  • Mutation in one gene
  • Mutations in multiple genes
  • Combination of gene mutations and environmental factors
  • Damage to chromosomes
• Nearly all diseases have a genetic component
• Types of genetic diseases


  • Single gene
  • Multifactorial inheritance
  • Chromosome abnormalities
  • Mitochondrial inheritance
• Single gene inheritance


  Also called Mendelian or monogenetic inheritance, changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance
• Patterns of single gene inheritance


  • Autosomal dominant
  • Autosomal recessive
• Autosomal dominant inheritance requires only one copy of a defective gene (from either parent) to cause the condition
• Autosomal recessive inheritance requires two copies of a defective gene to cause the condition
• Types of Genetic Diseases


  • Single gene
  • Multifactorial Inheritance
  • Chromosome Abnormalities
  • Mitochondrial Inheritance
• Single gene genetic disease


  Sickle cell anemia
• Sickle cell anemia


  • Inherited red blood cell disorder where there are not enough healthy red blood cells to carry oxygen throughout the body
  • Normally flexible, round red blood cells become rigid and sickle-shaped, getting stuck in small blood vessels and blocking blood flow and oxygen
  • No cure, but treatments can relieve pain and prevent complications
• Multifactorial Inheritance genetic disease

  Alzheimer's disease
• Alzheimer's disease


  • Slowly progressive brain disease characterized by impairment of memory, reasoning, planning, language, and perception
  • Treatment and management consists of medications and non-medication-based treatment
• Chromosome Abnormalities genetic disease

  Turner syndrome
• Turner syndrome


  • Chromosomal condition that alters development in females
  • Women tend to be shorter than average and are usually infertile
  • Other features can include webbed neck, lymphedema, skeletal abnormalities, heart defects, and kidney problems
  • Treatment includes growth hormone injections and estrogen replacement therapy
• Mitochondrial Inheritance genetic disease


  Leber's hereditary optic neuropathy (LHON)