Genetic Disorders
Classification of genetic disorders Single-gene disorders (2%) Chromosome disorders (<1%) Multifactorial disorders (60%)
Types of Mutation class of mutation mechanism frequency examples Genome chromosome missegregation 10-2 / cell division aneuploidy Chromosome chromosome rearrangement 10-4 / cell trans-locations Gene base-pair mutation 10-10 / cell point mutations
Mendelian inheritance reflects rules of probability The Rule of Multiplication - simultaneous events The Rule of Addition - successive events
The Rule of Multiplication (simultaneous events) number of gamete recombination x = 2n n = number of tested genes number of zygote recombination y = x2
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
Amniocentesis
Prenatal testing DNA analysis cytogenetics biochemical
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