Karyotype - History of Karyotype Studies

History of Karyotype Studies

Chromosomes were first observed in plant cells by Karl Wilhelm von Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888.

The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as the phenotypic appearance of the somatic chromosomes, in contrast to their genic contents. The subsequent history of the concept can be followed in the works of Darlington and White.

Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normal diploid human cell contain? In 1912, Hans von Winiwarter reported 47 chromosomes in spermatogonia and 48 in oogonia, concluding an XX/XO sex determination mechanism. Painter in 1922 was not certain whether the diploid number of humans was 46 or 48, at first favouring 46, but revised his opinion from 46 to 48, and he correctly insisted on humans having an XX/XY system. Considering the techniques of the time, these results were remarkable.

In textbooks, the number of human chromosomes remained at 48 for over thirty years. New techniques were needed to correct this error. Joe Hin Tjio working in Albert Levan's lab was responsible for finding the approach:

1. Using cells in tissue culture
2. Pretreating cells in a hypotonic solution, which swells them and spreads the chromosomes
3. Arresting mitosis in metaphase by a solution of colchicine
4. Squashing the preparation on the slide forcing the chromosomes into a single plane
5. Cutting up a photomicrograph and arranging the result into an indisputable karyogram.

The work took place in 1955, and was published in 1956. The karyotype of humans includes only 46 chromosomes. Rather interestingly, the great apes have 48 chromosomes. Human chromosome 2 is now known to be a result of an end-to-end fusion of two ancestral ape chromosomes.