disorders are caused by changes in dna aka mutations
TRANSCRIPT
Disorders are caused by changes in DNAaka mutations
Karyotype: A picture of all the chromosomes in one cellUsed to analyze genetic disorders
KaryotypesMale
What is the difference?What are the numbers for?
Down SyndromeTrisomy 21 (three
copies of chromosome 21)
Characterostics include learning difficulties, mental deficit, & a characteristic facial appearance
Heart defects
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
Klinefelters vs Turners
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
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
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
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
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
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
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
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?