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Genetic Disorders

Explore the classification of genetic disorders, including single-gene, chromosome, and multifactorial disorders. Learn about Mendelian inheritance, types of mutations, and the rules of probability involved. Discover concepts like amniocentesis, DNA analysis, and cytogenetics in genetic literature.

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Genetic Disorders

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  1. Genetic Disorders

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

  3. Types of Mutation

  4. Mendelian inheritance reflects rules of probability • The Rule of Multiplication - simultaneous events • The Rule of Addition - successive events

  5. The Rule of Multiplication(simultaneous events) • number of gamete recombination x = 2n n = number of tested genes • number of zygote recombination y = x2

  6. The Rule of Addition (successive events) • probability of dominant phenotype p = pAA + pAa A,a = alleles on a gene • probability of disease risk p = pF + pP F = familial risk P = population risk

  7. Amniocentesis

  8. Prenatal testing DNA analysis cytogenetics biochemical

  9. 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 279 – 281

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