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Single-gene Disorders

This overview focuses on the classification of genetic disorders, which include single-gene disorders (2%), chromosome disorders (<1%), and multifactorial disorders (60%). It outlines types of mutations such as point mutations, deletions, and insertions, as well as common examples of Mendelian inheritance patterns like autosomal dominant traits (e.g., Huntington's disease) and autosomal recessive traits (e.g., cystic fibrosis). The document also includes information on X-linked recessive disorders, such as hemophilia, and describes the implications of various genetic mutations.

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Single-gene Disorders

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  1. Single-gene Disorders

  2. Classification of genetic disorders • Single-gene disorders (2%) • Chromosome disorders (<1%) • Multifactorial disorders (60%)

  3. Pedigree

  4. Pedigree

  5. Pedigree

  6. Pedigree symbols

  7. Types of Mutation

  8. Gene Mutationbase-pair mutation Nucleotide Substitutions (point mutations) Deletions Insertions

  9. Gene Mutationbase-pair mutation Nucleotide Substitutions (point mutations) silent mutations missense mutations (amino acid substitutions) nonsense mutations (premature stop codons) RNA processing mutations Regulatory mutations

  10. Gene Mutationbase-pair mutation Deletions and Insertions • small number of bases is not a multiple of 3, cause frameshift is a multiple of 3, cause loss or gain of codons • larger gene deletions, inversions, fusions • insertion of L1 or Alu element • dynamic mutations – triplet expansion

  11. Genetic disorders with classical Mendelian inheritance

  12. Autosomal dominant trait

  13. Autosomal dominant pedigree

  14. Huntington’s disease

  15. Huntington’s disease

  16. Huntington’s disease

  17. Huntington’s disease

  18. Autosomal recessive trait

  19. Autosomal recessive pedigree

  20. Cystic fibrosis

  21. Cystic fibrosis

  22. Cystic fibrosis

  23. X-linked recessive trait

  24. X-linked recessive trait

  25. X-linked recessive pedigree

  26. Hemophilia

  27. Hemophilia

  28. Hemophilia

  29. Literature Biology, eighth edition, Campbell, Reece Unit three: Genetics Chapter 14: Mendel and the Gene Idea Concept 14.4: Many human traits follow Mendelian patterns of inheritance Pages 276 – 279

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