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Karyotypes and Sex-Linked Traits

Karyotypes and Sex-Linked Traits. Diagnose the karyotypes in the back of the room at your table. Make sure to include: Case number Boy or girl Number of chromosomes Normal or abnormal (if abnormal, what is the problem?). What is a karyotype?.

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Karyotypes and Sex-Linked Traits

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  1. Karyotypes and Sex-Linked Traits

  2. Diagnose the karyotypes in the back of the room at your table. • Make sure to include: • Case number • Boy or girl • Number of chromosomes • Normal or abnormal • (if abnormal, what is the problem?)

  3. What is a karyotype? • Picture of your chromosomes • Arranged from largest to smallest • quickly identify chromosomal changes • http://www.biology.arizona.edu/human_Bio/activities/karyotyping/karyotyping2.html

  4. Genetics Disorders and Mutations

  5. Mutations … • are changes in the genetic material • can be good or bad • can be on a single gene or the whole chromosome

  6. Genetic Disorder – abnormal condition that a person inherits through genes or chromosomes. They are caused by mutations or changes in a person’s DNA. Write down 3 disorders that have affected someone you know.

  7. Cystic Fibrosis • Genetic disorder where the body produces abnormally thick mucus in the lungs and intestines making respiration and digestion difficult • caused by a mutation in a gene. The product of this gene is a chloride ion channel important in creating sweat, digestive juices and mucus. • One in four babies are born with cystic fibrosis • Most common among Northern European descent

  8. Sickle Cell Anemia • Sickle cell is a genetic disorder that affects the blood’s hemoglobin. Hemoglobin is the protein in your blood that carries oxygen. • Sickle-cell anemia is caused by a point mutation in protein chain of hemoglobin, replacing the amino acid glutamic acid with the amino acid valine • The ‘sickle shape’ of the cell doesn’t allow the red blood cell to carry very much oxygen. • Most common among African American descent Famous People with Sickle Cell Disease Miles Davis, jazz musician. Paul Williams, singer (The Temptations) Georgeanna Tillman, singer (The Marvelettes) Tionne "T-Boz" Watkins, singer (TLC)

  9. Hemophilia • Hemophilia is a genetic disorder in which a person’s blood clots VERY slowly or not at all. • A person with hemophilia can bleed to death from a paper cut or scrape. • This is sex-linked disorder on the X chromosome. • Queen Elizabeth suffered from this disorder. This man received a vaccine. This is what having hemophilia did to is body.

  10. Down Syndrome • Down Syndrome is a genetic disorder that occurs when an individual receives an extra copy of a chromosome. • A mistake occurs during Meiosis I: the chromosomes failed to separate correctly (non-disjunction) therefore leaving an extra copy of chromosome #21.

  11. Doctor’s use tools like amniocentesis and karyotypes to helpdetect most diseases.

  12. 4 Types of Genetic Disorders 1. Single gene • Change in the DNA sequence • More than 6000 known disorders • Autosomal or sex linked • 1 in 200 births Examples: cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease

  13. Types of Genetic Disorders 2. Multi-factoral • combination of environmental factors and mutations in multiple genes • more complicated Examples: heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity

  14. Types of Genetic Disorders 3. Chromosomal • abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoining Example: Down Syndrome

  15. Types of Genetic Disorders 4. Mitochondrial • rare type of genetic disorder • caused by mutations in the non-chromosomal DNA of mitochondria

  16. ?

  17. Here are some genetics disorders, some you have heard about and some you haven’t.

  18. Turners Syndrome 1 in 5,000 births 45 chromosomes X only #23 MonosomyNondisjunction

  19. Turners Syndrome 96-98% do not survive to birth No menstruation No breast development No hips Broad shoulders and neck

  20. Cri-Du-Chat Syndrome 1 in 216,000 births 46 chromosomes XY or XX #5 Deletion of lower arm

  21. Cri-Du-Chat Syndrome Moon-shaped face Heart disease Mentally retarded Malformed larynx Normal lifespan

  22. Aniridia-Wilms Tumor Syndrome 1 in 50,000,000 births 46 chromosomesXY or XX #11 Deletion of upper arm

  23. Aniridia-Wilms Tumor Syndrome Mentally retarded Growth retarded Blindness Tumors on kidneys Short lifespan

  24. Thirteen Q Deletion Syndrome 1 in 500,000 births 46 chromosomesXY or XX #13 Deletion of lower arm

  25. Thirteen Q Deletion Syndrome Mentally retarded Deformed face No thumbs Heart disease Short lifespan

  26. Prader-Willi Syndrome 1 in 5,000,000 births46 chromosomes XY=97% XX=3% #15 Deletion of lower arm

  27. Prader-Willi Syndrome Small bird-like head Mentally retarded Respiratory problems Obesity Short lifespan

  28. Eighteen Q Deletion Syndrome 1 in 10,000,000 births 46 chromosomesXY or XX #18 Deletion of lower arm

  29. Eighteen Q Deletion Syndrome Mentally retarded Heart disease Abnormal hands and feet Large eyes Large ears Normal lifespan

  30. Cat-Eye Syndrome 1 in 1,000,000 births 46 chromosomesXY or XX #22 Deletion of bottom arm

  31. Cat-Eye Syndrome Fused fingers and toes Mentally retarded Small jaw Heart problems Normal lifespan

  32. Four-Ring Syndrome 1 in 10,000,000 births 46 chromosomesXY or XX #4 Inversion

  33. Four-Ring Syndrome Cleft palate Club feet Testes don’t descend Short lifespan

  34. Down Syndrome Trisomy 1 in 1,250 births 47 chromosomesXY or XX #21 Trisomy Nondisjunction

  35. Down Syndrome Short, broad hands Stubby fingers Rough skin Impotency in males Mentally retarded Small round face Protruding tongue Short lifespan

  36. Patau’s Trisomy Syndrome 1 in 14,000 births 47 chromosomesXY or XX #13 Trisomy Nondisjunction

  37. Patau’s Trisomy Syndrome Small head Small or missing eyes Heart defects Extra fingers Abnormal genitalia Mentally retarded Cleft palate Most die a few weeks after birth

  38. Edward’s Trisomy Syndrome 1 in 4,400 births47 chromosomes XX=80% XY=20% #18 Trisomy Nondisjunction

  39. Edward’s Trisomy Syndrome Small head Mentally retarded Internal organ abnormalities 90% die before 5 months of age

  40. Jacob’s Syndrome 1 in 1,800 births 47 chromosomesXYY only #23 Trisomy Nondisjunction

  41. Jacob’s Syndrome ? Normal physicallyNormal mentally Increase in testosterone More aggressive Normal lifespan

  42. Klinefelter Syndrome 1 in 1,100 births 47 chromosomesXXY only #23 Trisomy Nondisjunction

  43. Klinefelter Syndrome Scarce beard Longer fingers and arms Sterile Delicate skin Low mental ability Normal lifespan

  44. Triple X Syndrome 1 in 2,500 births 47 chromosomesXXX only #23 TrisomyNondisjunction

  45. Triple X Syndrome Normally physically Normal mentally Fertile

  46. ?

  47. There are traits that are controlled by one gene with 2 alleles. Often, one is dominant and the other is recessive • Example: widow’s peaks and dimples.

  48. Some traits are controlled by a gene with multiple alleles – 3 or more for a single trait. For example: blood types and skin color in humans.

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