6
EIGIL KJELDSEN and STEEN K0LVRAA
Table 1. Milestones in karyotyping and molecular cytogenetics
Early findings
Pre-banding era
Banding era
Several authors
in the 19th century
1882 Flemming
1883 Roux
1944 Avery et al.
1952 Hsu
1953 Watson & Crick
1956 Tjio & Levan
1958 Ford, Jacobs &
Lajtha
1959
Lejeune et al.;
Ford et al.
1960
1960 Edwards et al.;
Patau et al.
1960 Nowell &
Hungerford
1968 Caspersson et al.
1970 Chaudhuri et al.
Caspersson et al.
1970 Smith & Wilcox
Kelly & Smith
1971
1973 Cohen et al.
1976 Yunis
1981
- Cell theory
- Mendel's laws of inheritance
- First identification of miotic figures
Behavior of chromosomes in a
dividing cell
DNA - transforming factor
Hypotonic treatment of cells
DNA double helix and genetic
implications
46 chromosomes
First chromosome analysis in leukemias
First chromosomal diseases:
- (Down's syndrome) trisomy of
one of the smallest chromosomes.
- Turner's syndrome (monosomy X)
Denver Conference 23 human
chromosome pairs divided by
morphology into 7 groups (A - G)
- Trisomy for a D-group chromosome
- Trisomy for an E-group chromosome
First identification of chromosomal
disorder related to leukemia
Quinacrine mustard banding
G- and Q-banding refined
450-550 bands/metaphase
Birth of molecular genetics: specific
restriction endonucleases
Paris Conference - First cytogenetic
nomenclature of all 23 chr. pairs
First report on cloning DNA using
plasmids as vectors
High resolution chromosome banding
(up to 2000 bands/prophase)