gene dosage studies

Last reviewed 01/2018

The technique of using gene dosage to ascertain the position of genetic loci relies on the principle that unbalanced autosomal chromosomal disorders are associated with the loss or gain or certain genes.

If the altered genes contribute to, say, the concentration of an enzyme, then the relative amount of this enzyme on assay will be similarly altered. Similarly, the amount of a particular gene can be quantified by the intensity of autoradiographic bands on chromosomal typing.

If the relative amounts of gene product are compared with the known breakpoints in different chromosomes, then the relative position of the gene on the chromosome can be deduced.