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August 17, 1963

The Genetic DetectivesGeneticists are studying the cell culture to discover what links the hereditary unit and its corresponding protein phenotype.

JAMA. 1963;185(7):33. doi:10.1001/jama.1963.03060070005004

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"The actual physical-chemical links between the hereditary unit and its corresponding protein phenotype" are being elucidated by means of cell culture studies, according to Stanley M. Gartler, PhD, of the University of Washington, Seattle.

A variety of genetically controlled metabolic defects have been detected in cell cultures, Gartler told the International Conference. These include galactosemia, acatalasemia, oroticaciduria, glucose-6-phosphate dehydrogenase deficiency, the sphingolipidoses, and xeroderma pigmentosa.

Such defects are apparent not only in cultures derived from the affected persons, but from heterozygous carriers as well.

In galactosemia, both normal and heterozygous cultures will grow in a medium (glucose free, supplemented with galactose) that will not support galactosemic cultures. When these three types of cultures are submitted to radioisotope studies with labeled galactose and glucose, heterozygous as well as galactosemic cell cultures show decreased ability to metabolize galactose (30% and 0.1% of normal activity, respectively).

Acatalasemia apparently involves "a total deficiency of

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