Genetic Disorders

Classification of
genetic disorders

 Single-gene disorders (2%)

 Chromosome disorders (<1%)
 Multifactorial disorders (60%)
 Types of Mutation
class of mechanism frequency examples
mutation
Genome chromosome 10-2 / cell aneuploidy
missegregation division
Chromosome chromosome 10-4 / cell trans-
rearrangement division locations
Gene base-pair 10-10 / cell point
mutation division 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