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Notes: Pedigrees

Explore the orderly diagram of a family's genetic traits through pedigrees. Learn about relationships, genotypes, phenotypes, and allele dominance in both autosomal and sex-linked traits. Symbols and patterns explained with examples like Huntington's disease and Cystic Fibrosis.

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Notes: Pedigrees

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  1. Notes: Pedigrees Orderly diagram of a family’s genetic traits

  2. A pedigree shows… • relationships, sex, genotype & phenotype of each member • if an allele is dominant or recessive • if an allele is autosomal or sex-linked

  3. Symbols • Circle = female • Square = male • Horizontal line = parents • Vertical line = children • Symbol w/line through it = dead

  4. More symbols • Half-Shaded = heterozygous not affected (recessive disorder) • Completely darkened = homozygous affected • Half-Darkened = heterozygous affected (dominant disorder)

  5. Pattern #1- Autosomal Dominant • In general, males & females equally affected • NO skipping generations • Trait is expressed if allele is present

  6. AD EX: Huntington’s disease • Build up of protein causes damage to nerve cells in brain • Most people develop symptoms in 40s-50s • Symptoms start w/movement problems, slurred speech, balance problems, swallowing difficulties Huntington disease (right) showing a larger cavity where brain cells have died, compared with a normal brain (left).

  7. Pattern #2 – Autosomal Recessive • In general, males & females equally affected • Can skip generations • Both parents are carriers • Trait is expressed only if homozygous

  8. AR EX: Cystic Fibrosis • Defective chloride-ion transport protein in cell membranes • Symptoms – thick, heavy mucus clogs lungs, liver, pancreas • Most people do not survive past late 30s • Many treatments for symptoms, but NO cure

  9. Pattern #3 - Autosomal • In general, males & females equally affected • Father-child transmission of trait

  10. Pattern #4 – Sex-linked recessive • In general, more males are affected than females • If mom is carrier  sons are affected, not daughters • If dad is affected  daughters are carriers • NO dad-son transmission • NO male carriers

  11. EX: Red-Green Color Blindness • Affects males more than females • 3 types of cone cells working together give you color vision (red, blue, green)

  12. EX: Hemophilia • Affects males more than females • Missing blood clotting proteins • Lots of bleeding from minor cuts • Can suffer internal bleeding from bumps/bruises • Can be treated w/injections of clotting proteins

  13. Try this one • Autosomal dominant

  14. Autosomal recessive

  15. Dominant - Autosomal

  16. Recessive - Autosomal

  17. Recessive, X-linked

  18. Recessive - Autosomal

  19. Dominant - Autosomal

  20. Recessive, X-linked

  21. Autosomal recessive

  22. X-linked recessive

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