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  Human Genetics-Karyotyping

Human Genetics - Karyotyping:

Karyotyping is a method via which the complete set of chromosomes is estranged from a cell and the chromosomes are lined up in a karyogram. The word karyogram has now been substituted by the other word termed as Idiogram referring to a diagrammatic symbolization of chromosomes.

The karyological studies are generally made during mitosis; however the chromosome structure and details can also be best completed in meiotic preparations. It is much simpler to get and prepare appropriate mitotic cells. Mitosis also discloses the replicated chromosomes namely, sister chromatids.

The diploid set of chromosomes in eukaryotic cells has steady morphological (i.e., phenotypic) features like size, number, shape. The chromosomes are specified by other features like the arm ratio, secondary constriction, and banding pattern. The summation of all these characters that specify a set of chromosomes is termed as karyotyping.

Karyotyping includes the culture of foetal cells found in the amniotic fluid, in vitro, in an extremely nutritive solution having phytohaemagglutinin. The foetal cells are cultured with colchicine. Colchicine ends mitosis at metaphase. Whenever these cells are subjected to a hypotonic solution, the cells swell as the soluble salts are of lower concentration than in usual protoplasm. The water diffuses into cell and divides the chromosomes. The scattered chromosomes are then located on a slide, stained and photographed beneath a microscope. Individual chromosomes are then cut off from photograph and marked as homologous pairs to build an idiogram.

 

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