Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations ...
Disorders are caused by changes in DNA aka mutations.
-
Upload
debra-martin -
Category
Documents
-
view
219 -
download
2
Transcript of Disorders are caused by changes in DNA aka mutations.
![Page 1: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/1.jpg)
Disorders are caused by changes in DNAaka mutations
![Page 2: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/2.jpg)
Karyotype: A picture of all the chromosomes in one cellUsed to analyze genetic disorders
![Page 3: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/3.jpg)
KaryotypesMale
What is the difference?What are the numbers for?
![Page 4: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/4.jpg)
Down SyndromeTrisomy 21 (three
copies of chromosome 21)
Characterostics include learning difficulties, mental deficit, & a characteristic facial appearance
Heart defects
![Page 5: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/5.jpg)
Sex Chromosome DisordersTurners Syndrome (females) 45, X -symptoms: shorter than average, usually
infertile, An especially wide neck (webbed neck) and a low or indistinct hairline
Klinefelters syndromes (males) 47, XXY -symptoms include tall stature, and abnormal
body proportions, may be infertile, have feminine features and less developed male features
![Page 6: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/6.jpg)
Klinefelters vs Turners
![Page 7: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/7.jpg)
Cystic FibrosisMost common fatal genetic disorder in US –
30,000CF produces thick mucous that clogs the
lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes
Caused by a mutation in a single gene
![Page 8: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/8.jpg)
Sickle Cell AnemiaInherited blood disorder
About 80000 affected in America
More prevalent in African Americans
Causes blood cells to be sickle shaped due to abnormal hemoglobin protein
Blood cannot carry _____________________efficiently
![Page 9: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/9.jpg)
HemophiliaBleeding disorder ; individuals do not have
clotting facto and can bleed profusely from small injuries or bruises
X linked trait
Treatment includes clotting factor, physical therapy and even ice packs
Affected the Royal Family
![Page 10: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/10.jpg)
Genetic EngineeringManipulating or changing the DNA of an
organism
Often done with plants to create genetically modified (GMO) food that is resistant to pesticide
Useful applications in medicine – creating insulin textile industry – fiber
production
![Page 11: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/11.jpg)
Manipulating DNADNA can be cut at certain place using
restriction enzymes
DNA can be combined with other DNA to from recombinant DNA
PCR (polymerase chain reaction) copies DNA quickly
![Page 12: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/12.jpg)
Manipulating DNAGenes such as insulin can be taken from a
normal human cell and inserted into a bacterial cell. The bacteria can then produce insulin.
Transgenic organisms
![Page 13: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/13.jpg)
Manipulating DNAAgriculture - such as larger sheep that grow
more woolMedicine - such as cows that produce insulin
in their milkIndustry - such as goats that produce spider
silk for materials production
“Designer Babies” scientists can now manipulate the sex of a baby as well as eye color
![Page 14: Disorders are caused by changes in DNA aka mutations.](https://reader035.fdocuments.us/reader035/viewer/2022062716/56649ddd5503460f94ad572d/html5/thumbnails/14.jpg)
DNA FingerprintingAnalyzes and identifies a person based on
small differences in DNAUses Gel Electrophoresis to analyze bands of
DNAhttp://www.shsu.edu/~chm_tgc/sounds/push
movies/GE.gif
Used in CSI and Paternity tests
Who is the father?