Download 15-Single-gene

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
mutation
mechanism
frequency examples
Genome
chromosome
10-2 / cell
aneuploidy
missegregation
division
Chromosome chromosome
10-4 / cell
transrearrangement
division locations
Gene
base-pair
mutation
10-10 / cell point
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
dominant
Autosomal
recessive
X-linked
X-linked
dominant
X-linked
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