Mutation

• Mutation

  • Refers to any change in the nucleotide sequence as a result of a failure of the system to revert the change.
• Types of Mutation

  1. SMALL SCALE MUTATION - one or few nucleotides of a gene are affected.
  2. LARGE SCALE MUTATION - affects the structure of a whole or part of a chromosome or part of a chromosome.
• Genetic Conditions

  1. Down Syndrome
  2. Klinefelter Syndrome
  3. Turner Syndrome (Monosomy X)
  4. Cri-du-chat Syndrome
  5. Chronic Myelogenous Leukemia
  6. Patau's Syndrome (Trisomy 13)
  7. Edward's Syndrome (Trisomy 18)
• Down Syndrome (Trisomy 21)

  • Often have similar physical features, such as a flat facial profile, an upward slant to the eyes, small ears, and a tongue, correctable heart defects, and developmental delays.
  • extra copy of chromosome 21
• Klinefelter Syndrome

  • Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome.
  • genetic condition affecting males, and it often isn't diagnosed until adulthood.
• Turner Syndrome

  • condition that affects only females, results when one of the X chromosomes (sex chromosomes)is missing or partially missing.
  • Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile).
• Cri-du-chat Syndrome (Missing chromosome 5)

  • also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing.
  • Infants with this condition often have a high-pitched cry that sounds like that of a cat.
• CHRONIC MYELOGENOUS LEUKEMIA

  • Uncommon type of cancer of the bone marrow that increases the number of white blood cells in the blood
• PATAU'S SYNDROME (TRISOMY 13)

  • additional copy of chromosome 13 in some or all of the body's cells.
  • It is also called trisomy 13.
• EDWARD'S SYNDROME (TRISOMY 18)

  • Genetic condition in babies that causes severe disability.
  • extra copy of chromosome 18 and babies born with the condition usually do not survive for much longer than a week.
• Karyotyping

  • process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individual's chromosomes.
• Pedigree Analysis

  • Serves an alternative for karyotyping to determine how does an individual has a certain condition.
  • developed as a chart that can represent a family tree along with the family members and their genetic traits, respectively.
• Pedigree Chart

  • shows the occurrence and appearance of phenotypes of a particular gene or organism and its ancestors from one generation to the next.

  A) Female

  B) Male

  C) Deceased

  D) Fraternal Twins