A rare phenotype of phosphoglucomutase-2 first detected in Mongoloids |
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| Authors: | I Nishigaki T Itoh I Hasegawa |
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| Institution: | (1) Department of Pathology and Center for the study of Inherited Diseases, University of Washington, 98195 Seattle, Washington, USA;(2) Human Genetics, University of Würzburg, D-8700 Würzburg, Federal Republic of Germany |
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| Abstract: | Summary Improvements in the accuracy of DNA content determination by flow cytometry might allow the detection of aneuploidy in interphase cells to serve as an adjunct to conventional cytogenetics. We compared alternate methods of staining and fluorescence standardization in analyses of human diploid and constitutionally aneuploid cultured fibroblast-like cells. Optimum results were obtained using the dye DAPI (4,6-diamidino-2-phenylindole) and an avian red blood cell standard. The standard error of the estimate of DNA content by this technique was 0.7%–0.96%, approaching more closely than previously the range necessary for reliable discrimination of numerical chromosomal aberrations.Supported by NIH grants GM-15253, AG-01751 and DFG Grant SFB 105 |
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