Single-gene Disorders

Classification of
genetic disorders

 Single-gene disorders (2%)

 Chromosome disorders (<1%)
 Multifactorial disorders (60%)
Pedigree
Pedigree
Pedigree
Pedigree symbols
 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
 Gene Mutation
base-pair mutation
Nucleotide Substitutions
(point mutations)
Deletions
Insertions
 Gene Mutation
base-pair mutation
Nucleotide Substitutions (point mutations)
silent mutations
missense mutations (amino acid substitutions)
nonsense mutations (premature stop codons)
RNA processing mutations
Regulatory mutations
 Gene Mutation
base-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
Genetic disorders with classical
Mendelian inheritance
Dominant Recessive

Autosomal Autosomal Autosomal

dominant recessive

X-linked X-linked X-linked

dominant recessive
Autosomal dominant trait
Autosomal dominant pedigree
Huntington’s disease
Huntington’s disease
Huntington’s disease
Huntington’s disease
Autosomal recessive trait
Autosomal recessive pedigree
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
X-linked recessive trait
X-linked recessive trait
X-linked recessive pedigree
Hemophilia
Hemophilia
Hemophilia
 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