Chapter 1
GEN-11806
The Genetics Revolution
Birth of Genetics
Before Mendel…
Een wiskundige reeks waarmee hij toonde dat je de helft van je ouders krijgt, kwarten
van je grootouders, 1/8e van je overgrootouders etc.
1865 Mendel presented his laws of inheritance
Key concept: Mendel concluded
1. that genes behave like particles and do not blend together, and
2. one allele is dominant to the other
,1900 Mendel rediscovered
New ideas and questions:
➢ where in the cell are Mendel’s genes?
➢ how do genes function in the cell?
➢ what is a gene?
➢ how regulated?
➢ can Mendelian genes also explain continuous traits?
Key Events in the History of Genetics
,Key concept: Genes reside on chromosomes and are made of DNA. Genes encode
proteins that conduct the basic enzymatic work within cells.
After cracking the code
Genetic analysis applied to a variety of biological questions
Key concept: Genetic discoveries made in a model organism are often true of related
species and may even apply to all forms of life.
, Tools for genetic/genomic analysis
Isolated cellular enzymes: polymerases, nucleases, ligases
➢ Tagging (localizing
➢ Cloning
➢ Modifying (GMO)
➢ Hybridization (RNA/DNA)
➢ DNA sequencing
➢ Amplification
➢ Genomic computational tools
Key concept: Progress in genetics has both produced and been catalysed by the
development of molecular and mathematical tools for the analysis of single genes
and whole genomes.
Genetics today
From classical to medical genomics
Louise Benge has an undiagnosed disease: pain in legs → battery of tests
• low level of enzyme CD73 (blocks calcification → calcified arteries)
• pedigree analysis: recessive autosomal
• sequencing: similar fragment homozygous in all sisters/brothers
→ ~1/512 homozygosity expected between sibs in generation VI
→ CD73 gene located
Key concept: The integration of classical genetics and genomic technologies allows
the causes of inherited diseases to be readily identified and appropriate therapies
applied.
GEN-11806
The Genetics Revolution
Birth of Genetics
Before Mendel…
Een wiskundige reeks waarmee hij toonde dat je de helft van je ouders krijgt, kwarten
van je grootouders, 1/8e van je overgrootouders etc.
1865 Mendel presented his laws of inheritance
Key concept: Mendel concluded
1. that genes behave like particles and do not blend together, and
2. one allele is dominant to the other
,1900 Mendel rediscovered
New ideas and questions:
➢ where in the cell are Mendel’s genes?
➢ how do genes function in the cell?
➢ what is a gene?
➢ how regulated?
➢ can Mendelian genes also explain continuous traits?
Key Events in the History of Genetics
,Key concept: Genes reside on chromosomes and are made of DNA. Genes encode
proteins that conduct the basic enzymatic work within cells.
After cracking the code
Genetic analysis applied to a variety of biological questions
Key concept: Genetic discoveries made in a model organism are often true of related
species and may even apply to all forms of life.
, Tools for genetic/genomic analysis
Isolated cellular enzymes: polymerases, nucleases, ligases
➢ Tagging (localizing
➢ Cloning
➢ Modifying (GMO)
➢ Hybridization (RNA/DNA)
➢ DNA sequencing
➢ Amplification
➢ Genomic computational tools
Key concept: Progress in genetics has both produced and been catalysed by the
development of molecular and mathematical tools for the analysis of single genes
and whole genomes.
Genetics today
From classical to medical genomics
Louise Benge has an undiagnosed disease: pain in legs → battery of tests
• low level of enzyme CD73 (blocks calcification → calcified arteries)
• pedigree analysis: recessive autosomal
• sequencing: similar fragment homozygous in all sisters/brothers
→ ~1/512 homozygosity expected between sibs in generation VI
→ CD73 gene located
Key concept: The integration of classical genetics and genomic technologies allows
the causes of inherited diseases to be readily identified and appropriate therapies
applied.
