On the possible localization of a gene for triosephosphate isomerase on the short arm of human chromosome 5

Summary Chromosome 5 was examined by fluoresence microscopy in 13 individuals whose karyotype was 5p-. Great variation was observed in length (30–80% of the total short arm length), in type (translocation, interstitial and terminal deletions), and in localization of the deleted segment. There was no evidence of correlation between length, type or localization of deletion and triosephosphate isomerase activity. Triosephosphate isomerase activity of the 13 cases of karyotype 5p- was 2,74 moles/min/mg hemoglobin (95% confidence limits 2.49–3.32). Identical values were obtained in 16 normal individuals; 2.44 moles/min/mg hemoglobin (95% confidence limits 2.16–2.72). The present investigation does not confirm the postulated localization of the gene for triosephosphate isomerase on the short arm of human chromosome 5.

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Zusammenfassung 13 Patienten mit einem 5p—-Karyotyp wurden durch Fluorescenzuntersuchungen identifiziert und das Ausmaß der Deletion bestimmt. Triosephosphatisomeraseaktivitäten dieser 13 Fälle waren 2,74 mol/min/mg Hämoglobin, 95%-Vertrauensgrenzen 2,49–3,32.Identische Werte wurden bei 16 Normalpersonen gefunden (2,44 mol/min/mg Hämoglobin, 95%-Vertrauensgrenzen 2,16–2,72).Diese Befunde lassen sich dahingehend interpretieren, daß keine Assoziation zwischen Triosephosphatisomerase und Chromosom 5 besteht.

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Supported by the Research Committee of the Danish Mental Retardation Service (Project No. 106).