Cytogenetic and biochemical investigations of fibroblast cultures and clones with one and two active-X chromosomes of a 69, XXY triploidy

Bromodeoxyuridine replication patterns showed that fibroblasts from a 69,XXY triploidy carried either one or two early replicating X chromosomes. The activity of alpha-galactosidase A measured in single cells fell into two classes with a ratio of 1:2. Dilute plating produced clones of both types wit...

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Veröffentlicht in:	Human genetics 1983-09, Vol.64 (3), p.246-248
Hauptverfasser:	VOGEL, W, TRAUTMANN, T, HORLER, H, PENTZ, S
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Galactosidase - genetics Biological and medical sciences Cell Division Cells, Cultured Chromosome aberrations Clone Cells - cytology Dosage Compensation, Genetic Female Fibroblasts - cytology Galactosidases - genetics Humans In Vitro Techniques Infant, Newborn Klinefelter Syndrome - genetics Male Medical genetics Medical sciences Polyploidy X Chromosome
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Zusammenfassung:	Bromodeoxyuridine replication patterns showed that fibroblasts from a 69,XXY triploidy carried either one or two early replicating X chromosomes. The activity of alpha-galactosidase A measured in single cells fell into two classes with a ratio of 1:2. Dilute plating produced clones of both types with the activity of alpha-galactosidase A corresponding to the number of active X chromosomes. To our knowledge, this is the first report on clones of a triploidy with different numbers of active X chromosomes, and on a gene-dosage effect of an X-linked gene using triploid cells with one active X as control.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00279402