18 Human Genetics .pdf
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Original filename: 18 Human Genetics.pdf
Title: Chapter 7: A View of the Cell
Author: Hoggard
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Human Genetics
Pedigree
• Graphic representation of genetic
inheritance
• Family tree
Pedigree
RecessiveTraits
• Attached earlobe
• Hitchhikers thumb
• 2nd toe larger
than big toe
Recessive Disorders
• Cystic Fibrosis
– Abnormal amounts of mucus in
lungs
– Abnormal cilia in lungs
– Death by age 20
– 1 in 20 white Americans
are carriers
Recessive Disorders
• Albinism
– Lack of pigmentation
Recessive Disorders
• Tay Sachs
– Absence of enzyme
that breaks down
lipids
– Lipids build up in the
brain causing brain
damage
– Death by age 5
– Amish and Ashkenazic Jews
Recessive Disorders
• Phenylketonuria-PKU
– Absence of enzyme that breaks
down phenylalanine
– Phenylalanine builds up causing
brain damage
– Treated with diet
Recessive Pedigree
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