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Genetic Disorders and Diseases PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Genetic Disorders & Diseases".
This medical PowerPoint presentation talks about Genetic disorders and diseases, conditions that are caused by abnormalities or mutations in an individuals genetic material. These disorders can be inherited from one or both parents, or they can occur spontaneously due to a genetic mutation that happens during embryonic development.
Some common examples of genetic disorders and diseases include Down Syndrome, Cystic Fibrosis, Hemophilia, Huntingtons Disease, and Sickle Cell Anemia etc.

Tags : Genetic Disorders, Genetic Diseases, Down Syndrome, Cystic Fibrosis, Hemophilia, Huntingtons Disease, Sickle Cell Anemia, genetics, Genetics PowerPoint presentation

Published on : Mar 27, 2023 | Views : 1911 | Downloads : 1

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Slide 1-

Genetic Disorders & Diseases
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Genetic Disorders/diseases Genetic disorders/diseases are caused by mutations. A mutation is any type of change in genetic material. Mutations are caused by: Radiation X-rays, sun exposure Chemicals May contain toxic substances
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Mutations You can pass on mutations to your offspring only if the mutation is in your sex cells!!
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Mutations Mutations in your body cells can be passed on to other cells of your body only!! Cancer (not inherited)
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Types of Mutations Whole chromosomes are missing OR there are extra chromosomes. This is caused by disjunction which happens during meiosis when chromosomes did not segregate or separate and distribute to the gametes properly. Examples: Trisomy 13 Trisomy 21 Turner’s Syndrome Kleinfelter’s Syndrome
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Trisomy 21 – Down’s Syndrome Extra copy of chromosome 21 The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother.
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Trisomy 13 Chromosomal condition that is associated with severe mental retardation and certain physical abnormalities. small eyes that may exhibit a split in the iris an opening in the roof of the mouth (a cleft palate) and/or a cleft lip, weak muscle tone skeletal abnormalities, Affected individuals rarely live past infancy because of the life-threatening medical problems associated with this condition Trisomy 13 affects approximately 1 in 10,000 newborns. The risk of having a child with trisomy 13 increases as a woman gets older.
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Turner’s Syndrome One sex chromosome Underdeveloped sex characteristics One in 2500 births
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Kleinfelter’s Syndrome 2 XX’s 1 Y Underdeveloped sex organs
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Types of Mutations 2. Sections of Chromosomes are missing or misplaced. Inversion mutation Duplication Deletion
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Sections of Chromosomes are missing or misplaced con’t… Translocation
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Genetic Disorders Genetic Disorders can also be caused by recessive defective alleles: Each parent carries 1 recessive allele. Offspring may inherit the defective allele from both parents and get the disease. Sickle cell Phenylketonuria Tay-Sachs Cystic Fibrosis Huntington’s Disease
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Sickle Cell Your Genes, Your Health http://www.ygyh.org/index.htm
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Phenylketonuria - PKU Most children are screened at birth for PKU Can lead to mental retardation Smaller than normal head Epilepsy Deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine
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Tay-Sachs Disease Your Genes, Your Health
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Cystic Fibrosis & Huntington’s Disease Huntington's Disease – dominant disease, you need to inherit only 1 copy of the disease to have it. Abnormal protein is produced and you start to kill brain tissue occurs around middle age, mood swings, paralysis, loss of memory, uncontrolled movements and eventually death 1 in 20,000 in western hemisphere, 1 in 1 million in Asia Cystic Fibrosis – recessive disorder, a genetic mutation stops the production on a protein of cells in the lung, pancreas or other organ Affects about 1 on 2500 births in the US