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Genetic Disorders Inheritance of Genetic Traits. Gregor Mendel 1866 Gregor Mendel published the results of his investigations of the ________ of "factors"

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Presentation on theme: "Genetic Disorders Inheritance of Genetic Traits. Gregor Mendel 1866 Gregor Mendel published the results of his investigations of the ________ of "factors""— Presentation transcript:

1 Genetic Disorders 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 ( ), 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 ( ) 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 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 DNA testing in forensics cases gains fame in the O.J. Simpson trial.

12 Cloning Begins Dolly the sheep - the first adult animal cloned on July

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 hereditary mutation 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

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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 Syndrome or Trisomy 21

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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.

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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. 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

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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 ______ ______. 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 disease is most commonly found in African American populations. 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

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

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.

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51 Phenylketonuria or PKU People with PKU cannot consume any product that contains ___________. PKU is a _________ disorder that results when the PKU gene is inherited from both parents (recessive or dominant? Monogenic or chromosomal?) Caused by a deficiency of an ________ which is necessary for proper metabolism of an amino acid called phenylalanine.

52 PKU Phenylalanine is an essential amino acid and is found in nearly all foods which contain protein, dairy products, nuts, beans, tofu… etc. A low protein diet must be followed. Brain damage can result if the diet is not followed causing mental retardation…and mousy body odor (phenylacetic acid is in sweat).

53 PKU

54 Phenylalanine. Free diet

55 Color Blindness Cause: ____________ recessive 1/10 males have, 1/100 females have. Why the difference? Individuals are unable to distinguish shades of red-green. Are you color blind?

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58 Albinism Patients are unable to produce skin or eye pigments, and thus are light- sensitive Autosomal recessive –Therefore, is it monogenic or chromosomal?

59 The very tragic disease… hairy ears Y-linked trait, which are rare symptoms…hairy ears Only 1 cure known….

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