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?