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Understanding Mutations and Genetic Disorders for Better Health

Learn about mutations, types of gene mutations, and how they can affect genetic information. Explore point mutations, frame-shift mutations, causes of mutations, and ways genetic disorders are passed on. Discover chromosomal mutations, including deletion and duplication, and how they can lead to conditions like Down Syndrome. Get insights on ways to detect genetic disorders and the importance of genetic counseling and medical genetic research. Explore genetic disorders like PKU and Tay-Sachs Disease.

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Understanding Mutations and Genetic Disorders for Better Health

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  1. Mutations

  2. What is a mutation? • Changes in the DNA sequence that affect genetic information.

  3. Gene Mutations • Result from changes in a single gene. • 3 Types: • Substitution • Insertion (Frame-shift) • Deletion (Frame-shift)

  4. Point Mutations • Substitution • One nucleotide replaces another. • Usually changes one amino acid in the sequence of the protein. • Ex: sickle cell anemia

  5. Point Mutation (Substitution)

  6. Frame Shift Mutations • Insertion/Deletion • Insertion - the addition of a nucleotide. • Deletion - the removal of a nucleotide. • Bases are still read in groups of three (codons). • Changes many amino acids in the sequence of the protein

  7. Frame Shift Mutation (Insertion)

  8. Frame Shift Mutation (Deletion)

  9. Which would you rather have?

  10. What Causes Mutations? • May occur spontaneously during cell division/meiosis. • X-rays • Asbestos • Insecticides • UV light • Radioactive substances

  11. How Are Mutations Passed On? • The mutation must happen in a sex cell (gamete).

  12. Chromosomal Mutations • Involve changes in whole chromosomes. • chromosomal mutations • 5 types: 1. Translocation 2. Duplication 3. Deletion 4. Inversion 5. Nondisjunction

  13. Chromosomal MutationsDeletion, Inversion, Translocation, Duplication https://www.youtube.com/watch?v=FgMKGIED4Yo

  14. Chromosomal Mutations https://www.youtube.com/watch?v=FgMKGIED4Yo

  15. Nondisjunction • An error that occurs during meiosis in which homologous chromosomes fail to separate properly. • One gamete may receive two of the same type of chromosome and another gamete receives no copy. • Ex- down syndrome

  16. Down Syndrome (Trisomy 21) • Trisomy:having three copies of one chromosome. • Down Syndrome is caused by a trisomy on the 21st chromosome. • Likelihood of this disorder increases with the increasing age of the mother.

  17. Age of Mother vs. Down Syndrome

  18. Ways to Detect Genetic Disorders • Karyotyping- prepared enlarged photograph showing paired homologous chromosomes from a cell. • May show chromosomal abnormalities such as an extra or missing chromosome.

  19. Testing for Down Syndrome https://www.youtube.com/watch?v=Ju-q4OnBtNU http://www.bmhvt.org/healthmatters/pros-and-cons-of-genetic-screening-during-pregnancy What are your thoughts on Down Syndrome testing? Would could the mother do?

  20. Medical Genetic Research • Generates knowledge used to design ways of diagnosing, preventing, treating, controlling, or curing diseases of plants and animals.

  21. Genetic Counseling • Discussions between physician and the family which may include inheritance patterns, prediction of genetic disorders, and family planning. • Screening • Karyotyping • Amniocentesis

  22. Screening • Chemical analysis of body fluids such as blood and urine. Analysis may indicate the presence of chemicals associated with genetically-related disorders.

  23. Amniocentesis • Involves the removal of amniotic fluid for chemical analysis. • This technique can show the chromosome content of the cells of the embryo.

  24. Amniocentesis https://www.youtube.com/watch?v=bZcGpjyOXt0

  25. Genetic Disorders • PKU (Phenylketonuria): individuals lack the enzyme that is needed to break down phenylalanine. • If a newborn has PKU, phenylalanine may build up in the tissues during the child’s first years of life and cause severe mental retardation. • https://www.youtube.com/watch?v=XKSoMi4U-1k

  26. Genetic Disorders: PKU

  27. Genetic Disorders • Tay-Sachs Disease: lipid accumulation in the brain cells, mental deficiency, blindness, death in early childhood. • https://www.youtube.com/watch?v=RzEpkBU-ITA

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