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Karyotyping

Karyotyping. What cell part must this be?!?. What are these things?!?. Karyotype. Chart that shows all the chromosomes in homologous pairs Pair #23 is the sex chromosomes CAN ONLY USE CELLS WITH NUCLEUS TO CONSTRUCT KARYOTYPES.

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Karyotyping

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  1. Karyotyping What cell part must this be?!? What are these things?!?

  2. Karyotype • Chart that shows all the chromosomes in homologous pairs • Pair #23 is the sex chromosomes • CAN ONLY USE CELLS WITH NUCLEUS TO CONSTRUCT KARYOTYPES

  3. NOT to be confused with when Mrs. Redinger sang KARAOKE in COSTA RICA…

  4. Nondisjunction • Unequal separation of chromosomes during meiosis

  5. Down Syndrome • Trisomy of chromosome 21. Mental retardation, almond shaped eyes.

  6. Edward’s Syndrome • Trisomy 18. Mental retardation, feet deformities. Die as infants.

  7. Patau Syndrome • Trisomy 13. Cleft lip & palate, severe retardation. Die as infants.

  8. Klinefelter Syndrome • Trisomy of sex chromosomes (XXY). Tall, very small testicles, sterile.

  9. Metafemale • Trisomy (XXX). Undeveloped secondary sex characteristics, sterile.

  10. Jacob’s Syndrome • Trisomy (XYY). Low mental ability, violent tendencies.

  11. Turner Syndrome • Monosomy (X). Cannot reproduce & do not develop sexually.

  12. Chromosomal Mutations1. Deletion • Loss of a piece of DNA from a chromosome

  13. Ex: Criduchat • Large deletions of genes on chromosome 5. Small heads, cry like a cat’s meow, life span usually 1-2 years.

  14. Chromosomal Mutations2. Duplication • Production of one or more copies of any piece of DNA, including a gene or even an entire chromosome

  15. Ex: Pallister-Killian Syndrome • Result of extra #12 material leading to severe mental retardation, poor muscle tone, and prominent forehead

  16. A Chromosomal Mutations3. Insertion • Type of chromosomal abnormality when a DNA sequence is inserted into a gene, disrupting the normal structure and function of that gene

  17. A Chromosomal Mutations4. Translocation • Breakage and removal of a large segment of DNA from one chromosome where it then attaches to another chromosome

  18. A Chromosomal Mutations5. Inversion • Rearrangement of a segment of a chromosome within itself

  19. Recessive Allelic Diseases (nn) • If the two individual receives alleles, he or she will get the disease.

  20. Tay-Sachs • Cannot break down lipids in the body. Results in blindness, seizures and most do not survive past a few years (5)

  21. Cystic Fibrosis • Excess mucus produced by lungs and pancreas. With treatment, people can live into early adulthood (~37yr)

  22. Dominant Allelic Diseases ( DD or Dd) • Less common than recessive-most cause death before the individual can reproduce • Therefore, the allele does not get passed on • There are exceptions

  23. Huntington’s Disease • Deterioration of the brain and nervous system. Usually begins in the 30’s and 40’s

  24. Acondroplasia • Dwarfism (4’4”)

  25. Let’s Practice Reading!!!

  26. Dyslexia

  27. Codominant Allelic Diseases • Codominant- both alleles expressed fully

  28. Sickle-Cell Anemia • Defective shape of red blood cells: sickle versus round • Common among Africans, the sickle shaped cells tend to form chains and clog capillaries • Blood flow stops, death may result if not treated

  29. Sex- Linked Diseases • Found on the X chromosome

  30. Colorblindness

  31. Hemophilia • Blood cannot clot properly due to lack of platelets

  32. Duchenne Muscular Dystrophy • Gradual deterioration & weakening of muscle

  33. Genetic Screening • 1. LISTEN • FOLLOW NOTES • ADD TO NOTES • ASK QUESTIONS

  34. Genetic ScreeningGoal is to identify people with genetic disorders and those who have the potential of passing a disorder on to an offspring.

  35. TYPES OF SCREENING: • The three types of genetic screening are: • Pre-natal – which is done before birth. • Newborn – this is done as close to the birth of the baby as possible. • Carrier – this is done much later in life when a person is considering having kids. If screening reveals problems are likely, further testing would be required in order to make a positive diagnosis.

  36. Pre-natal

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