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Chapter 12.1: Human Traits

This chapter focuses on the interpretation of genetic pedigrees, illustrating how to track human traits through family trees. It details the symbols used, such as circles for females and squares for males, and explains the significance of shaded and unshaded patterns. Additionally, it explores common recessive disorders like Cystic Fibrosis, Tay-Sach’s Disease, and Phenylketonuria (PKU), highlighting their genetic implications and treatments. The chapter also touches on dominant disorders, including Huntington's Disease, emphasizing their inheritance patterns.

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Chapter 12.1: Human Traits

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  1. Chapter 12.1: Human Traits

  2. Pedigrees • Genetic Family Tree • Maps only one trait at a time

  3. How to Read a Pedigree • Circle = Female • Square = Male • Shaded = has trait • Unshaded = doesn’t show trait • Half-shaded = Heterozygous • Horizontal line between male and female = parents • Vertical line = parents to kids • Each row = generation

  4. Recessive Disorders • Most disorders are recessive • Cystic Fibrosis • Most common in white Americans • Defective protein in cells • Thick mucus in lungs and stomach • Treatment = physical therapy, special diets and medications

  5. Recessive cont… • Tay-Sach’s Disease • Affects brain and spinal cord • Lacking an enzyme that breaks down lipids • Lipids accumulate in brain and spinal cord • Common in Jewish-Americans and Amish

  6. Recessive cont… • Phenylketonuria (PKU) • Phenylalanine (amino acid) accumulates in body • Causes severe damage to brain • Americans from Norway or Sweden • Born normal • Infant drinks mom’s milk, which is high in phenylalanine • Causes mental retardation • PKU test given to all newborns • Treatment = special diet until brain is fully developed (early 20s)

  7. Dominant Disorders • Only need to inherit disease from one parent • HuntingtonsDisease • Lethal • Brain breaks down • No treatment • Doesn’t show up until 30-50

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