Genetic Disorders

1. GeneticDisorders Inheritance of Genetic Traits

2. Gregor Mendel • 1866 • Gregor Mendel published the results of his investigations of the ________ of "factors" in ____ plants.

3. Rosalind Franklin • 1950's. • Maurice Wilkins (1916- ), Rosalind Franklin (1920-1957), Francis H. C. Crick (1916- ) of Britain and James D. Watson (1928- ) of the U.S. Discover ________ ________ of ___, starting a new branch of science--molecular biology. .

4. Watson and Crick • Watson and Crick made a _____ of the DNA molecule and proved that genes determine _________

5. Arthur Kornberg • 1957 • Arthur Kornberg (1918- ) of the U.S. produced ____ in a test _______.

6. Genetic code • 1966 • The Genetic code was discovered; scientists are now able to predict characteristics by studying DNA. This leads to genetic engineering, genetic counseling.

7. Barbara McClintock • 1983 • Barbara McClintock (1902-1992) of the U.S. was awarded the Nobel Prize for her discovery that ______ are able to change _______ on chromosomes.

8. DNA Fingerprinting • The late 1980's. • An international team of scientists began the project to map the human genome. • The first crime conviction based on DNA fingerprinting, in Portland Oregon.

9. Gene Therapy • 1990. • Gene therapy was used on patients for the first time.

10. Dr. Kary Mullis • 1993 • Dr. Kary Mullis discovered the ___(Polymerase chain reaction) procedure, for which he was awarded the Nobel prize.

11. DNA Testing • 1995. • DNA testing in forensics cases gains fame in the O.J. Simpson trial.

12. Cloning Begins • 1997. • Dolly the sheep - the first adult animal cloned on July 5 1996.

13. Human Genome Project • Imagine a world in which we will be able to treat diseases by altering our very genes • This will give us new ones if ours are non-functional • Changing bad genes for good ones.

14. Human Genome Project • For the first time in our existence, we are closer to understanding just what we are. • We now have the tools to make the whole world better through science the science of the human genome.

15. Genetic Disorders

16. Mutations • Well what are mutations? • Gene mutations can be either _______ from a parent or ________. • A hereditarymutation is a ______ that is present in the DNA of virtually ____ body cells.

17. Mutations • Hereditary mutations are also called ______ ______ mutations • This is because the gene change exists in the reproductive cells and can be passed from generation to generation, from parent to newborn. • Moreover, the mutation is copied every time body cells divide

18. But first, Nondisjunction • What is non-disjunction? • This is when the chromosomes ________ separate properly during meiosis

20. Down’s Syndrome – Trisomy 21 • Caused by ________________ of the _______ chromosome. • This means that the individual has a ______ (3 – 2lst chromosomes). • What does tri mean? • It means _______ (ex., tricycle) • What about somy? • It means ______

21. Karyotype of Down’s Syndromeor Trisomy 21

23. Symptoms of Down Syndrome • Upward slant to eyes. • Small ears that fold over at the top. • Small, flattened nose. • Small mouth, making tongue appear large. • Short neck. • Small hands with short fingers.

24. Symptoms of Down Syndrome • Low muscle tone. • Single deep crease across center of palm. • Looseness of joints. • Small skin folds at the inner corners of the eyes. • Excessive space between first and second toe. • In addition, down syndrome always involves some degree of mental retardation, from mild to severe. In most cases, the mental retardation is mild to moderate.

25. Kleinfelter’s syndrome – What is that? • Disorder occurring due to __________ of the __ chromosome. • The Sperm containing both __ and__ combines with an egg containing the __, results in a ____ child. • The egg may contribute the extra X chromosome.

27. XXY - Symptoms • Males with some development of breast tissue normally seen in females. • Little body hair is present, and such person are typically tall, have small testes. • Infertility results from absent sperm. • Evidence of mental retardation may or may not be present.

28. XXY - Karyotype

29. Klinefleter’s Syndrome

30. Turner’s Syndrome • The cause of the disease is ____________ during meiosis • The result is said to be __________ • What does that mean? • It means it only has _____ of a pair of chromosomes

31. Turner’s Syndrome • Turner syndrome is associated with underdeveloped ovaries, short stature, webbed, and is only in women. • Bull neck, and broad chest. Individuals are sterile, and lack expected secondary sexual characteristics. • Body hair, size, skin texture, voice change

33. Turner’s Syndrome • Mental retardation typically not evident. • Turner syndrome does not typically cause mental retardation or impair cognition. • However, learning difficulties are common among

34. Turner’s Syndrome

35. Sickle Cell Anemia • An ________, chronic disease in which the ____ blood cells, normally disc-shaped, become ______ shaped. • As a result, they function abnormally and cause small ______ ______. • These clots give rise to recurrent painful episodes called "sickle cell pain crises".

36. Sickle Cell Anemia

37. Sickle Cell Anemia • Sickle cell disease is most commonly found in African American populations.  • Why? • This disease was discovered over 80 years ago, but has not been given the attention it deserves.

38. Cystic Fibrosis (CF) • Monogenic • Cause: deletion of only __ bases on chromosome ___

39. Cystic Fibrosis (CF) • Fluid in lungs, potential respiratory failure (pulmonary edema) • Common among Caucasians…1 in 20 individuals are carriers in the population • Therefore is it dominant or recessive? • It is actually recessive

40. Tay-Sachs disease • Monogenic, ________ recessive • What does monogenic mean? • It means that it is controlled by only one gene

42. Tay-Sachs disease • Central nervous system degrades, ultimately causing death. • Most common among people of Jewish, eastern Europe descent.

43. Muscular Dystrophy • What Is Muscular Dystrophy?Muscular dystrophy • it is a disease in which the ______ of the body get weaker and weaker • slowly stop working because of a lack of a certain protein

44. Muscular Dystrophy • Can be passed on by one or both parents, depending on the form of MD • There is autosomal dominant and recessive types

45. Hemophilia is the oldest known hereditary ________ disorder. Caused by a recessive gene on the X chromosome. One can bleed to death with small cuts. Hemophilia, the royal disease

46. Hemophilia, the royal disease • The severity of hemophilia is related to the amount of the clotting factor in the blood. • About 70% of hemophilia patients have less than one percent of the normal amount • Thus, they have severe hemophilia

47. X-linked Inheritance pedigree chart

48. Huntington’s Disease • Huntington's disease (HD) is an inherited, degenerative ______ disorder which results in an eventual loss of both mental and physical control. • The disease is also known as Huntington's chorea. • Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.