Gene dosage effect in human triploid fibroblasts

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1976 English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 33, pages 61-66 (issn: 0340-6717, eissn: 1432-1203,

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Authors: C, Junien; H, Rubinson; J C, Dreyfus; M C, Meinenhofer; N, Ravise; J, Boué; A, Boué;

doi: 10.1007/bf00447287

pmid: 939558

Gene dosage effect in human triploid fibroblasts

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Abstract

The activity of 13 cytoplasmic enzymes has been determined in fibroblast extracts from 9 triploid and 13 control lines. The results show a high activity for 2 X-linked enzymes, glucose 6-phosphate dehydrogenase and phosphoglycerate kinase. These data, together with cytogenetic observations, support the contention that 2 X chromosomes were active in the triploid lines.

Keywords

Polyploidy, Phosphoglycerate Kinase, Phenotype, Sex Chromosomes, Humans, Fibroblasts, Glucosephosphate Dehydrogenase

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