Single-gene DisordersSingle-gene Disorders
Classification ofClassification of genetic disorders genetic disorders
Single-gene disorders (2%)Chromosome disorders (<1%)Multifactorial disorders (60%)
PedigreePedigree
PedigreePedigree
PedigreePedigree
PedigreePedigree symbols symbols
Types of MutationTypes of Mutation
class of mutation
mechanism frequency examples
Genome chromosome missegregation
10-2 / cell
division
aneuploidy
Chromosome chromosome rearrangement
10-4 / cell
division
trans-locations
Gene base-pair mutation
10-10 / cell
division
point mutations
Gene MutationGene Mutationbase-pair mutationbase-pair mutation
Nucleotide Substitutions(point mutations)
DeletionsInsertions
Gene MutationGene Mutationbase-pair mutationbase-pair mutation
Nucleotide Substitutions (point mutations) silent mutationsmissense mutations (amino acid substitutions)
nonsense mutations (premature stop codons)
RNA processing mutationsRegulatory mutations
Gene MutationGene Mutationbase-pair mutationbase-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, fusionsinsertion of L1 or Alu element dynamic mutations – triplet expansion
Genetic disorders with classical Genetic disorders with classical Mendelian inheritanceMendelian inheritance
Dominant Recessive
Autosomal Autosomal dominant
Autosomal recessive
X-linked X-linked dominant
X-linked recessive
Autosomal dominant traitAutosomal dominant trait
Autosomal dominant pedigreeAutosomal dominant pedigree
Huntington’s diseaseHuntington’s disease
Huntington’s diseaseHuntington’s disease
Huntington’s diseaseHuntington’s disease
Huntington’s diseaseHuntington’s disease
Autosomal recessive traitAutosomal recessive trait
Autosomal recessive pedigreeAutosomal recessive pedigree
Cystic fibrosisCystic fibrosis
Cystic fibrosisCystic fibrosis
Cystic fibrosisCystic fibrosis
X-linked recessive traitX-linked recessive trait
X-linked recessive traitX-linked recessive trait
X-linked recessive pedigreeX-linked recessive pedigree
HemophiliaHemophilia
HemophiliaHemophilia
HemophiliaHemophilia
LiteratureLiterature
Biology, eighth edition,Campbell, Reece
Unit three: GeneticsChapter 14: Mendel and the Gene IdeaConcept 14.4: Many human traits follow
Mendelian patterns of inheritancePages 276 – 279
