Download Genetic Disorders

Disorders are caused by changes in DNA
aka mutations
Karyotype: A picture of all the
chromosomes in one cell
 Used to analyze genetic disorders
Karyotypes
Male
What is the difference?
What are the numbers for?
Down Syndrome
 Trisomy 21 (three copies
of chromosome 21)
 Characterostics include
learning difficulties,
mental deficit, & a
characteristic facial
appearance
 Heart defects
Sex Chromosome Disorders
 Turners 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 Fibrosis
 Most common fatal genetic disorder in US – 30,000
 CF 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 Anemia
 Inherited 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
Hemophilia
 Bleeding 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 Engineering
 Manipulating 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 DNA
 DNA 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 DNA
 Genes 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 DNA
 Agriculture - such as larger sheep that grow more wool
 Medicine - such as cows that produce insulin in their
milk
 Industry - 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 Fingerprinting
 Analyzes and identifies a person based on small
differences in DNA
 Uses Gel Electrophoresis to analyze bands of DNA
 http://www.shsu.edu/~chm_tgc/sounds/pushmovies/
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Used in CSI and
Paternity tests
Who is the
father?