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Transcript
GENETIC
ABNORMALITIES
Introduction to Biology
A. Mutations: any change in the
genetic code usually caused by an
environmental factor
 1. temperature
 2. light
 3. chemicals(x-ray,asbestos, UV rays, etc
B. Gene Failure: gene is
nonfunctional or stops working
 1. PKU: lack of enzyme to breakdown
amino acid phenylalinine
 2. Diabetes: insulin production stops
 3. Huntington’s Chorea: nerve
deterioration
 4. Cystic Fibrosis: pancreas fails to make
enzymes needed to breakdown foods
PKU
Cystic Fibrosis
C. Nondisjunction: failure to split
normallyduring meiosis
 1. Body Chromosomes
a. Edward’s Syndrome: extra 18th
b. Down’s Syndrome: extra 21st
 2. Sex Chromosomes
a. Turner’s Syndrome: X
b. Klinefelter’s Syndrome: XXY
c. Supermale: XYY
d. Multi-X: XXX
Down’s Syndrome
Kleinfelter’s Syndrome
Supermales