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Spätreplizierendes X-chromosom und Sexchromatinhäufigkeit beim Menschen

Late-replicating X-chromosome and sex chromatin frequency in man

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Summary

The frequency of the late-replicating X-chromosome was investigated with the aid of3H-thymidine in fibroblast- and leucozyte cell cultures derived from normal human females. In the fibroblast cell cultures also the sex chromatin frequency in interphase nuclei was determined.

A late-replicating X-chromosome was found in all of the investigated metaphases of either the fibroblast (94 metaphases) or leucozyte (62 metaphases) cell cultures. The interphase nuclei of the fibroblasts, derived from the same passage from which the studies on the frequency of the late-replicating X-chromosome were performed, indicate an average sex chromatin frequency of 54%.

The results imply that in female nuclei one of the two X-chromosomes is constantly latereplicating. This is also valid for those female cells, which show no sex chromatin in interphase. Hence it follows that the late-replication of the heterochromatic X-chromosome is not necessarily correlated with its heteropycnosis.

Zusammenfassung

In Fibroblasten- und Leukocytenkulturen von normalen, gesunden Frauen wurde die Häufigkeit eines spätreplizierenden X-Chromosoms mit Hilfe der3H-Thymidinmarkierung untersucht. In den Fibroblastenkulturen wurde außerdem die Sexchromatinhäufigkeit in Interphasekernen bestimmt.

In allen untersuchten Mitosen sowohl der Fibroblasten- (94 Metaphasen) als auch der Leukocytenkulturen (62 Metaphasen) konnte ein spätreplizierendes X-Chromosom nachgewiesen werden. Die Interphasekerne der Fibroblasten, die von derselben Passage stammten, an der auch die Untersuchungen über die Häufigkeit eines spätreplizierenden X-Chromosoms durchgeführt wurden, zeigen eine Sexchromatinhäufigkeit von durchschnittlich 54%.

Die Ergebnisse bedeuten daß in weiblichen Zellen stets eines der beiden X-Chromosomen spätreplizierend ist. Dies gilt insbesondere auch für die weiblichen Zellen, in denen in der Interphase kein Sexchromatin nachweisbar ist. Daraus folgt, daß die Spätreplikation des heterochromatischen X-Chromosoms nicht notwendigerweise mit der Heteropyknose desselben verbunden ist.

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Der Medizinischen Fakultät der Justus Liebig-Universität Gießen als Dissertation vorgelegt.

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Heil, B. Spätreplizierendes X-chromosom und Sexchromatinhäufigkeit beim Menschen. Humangenetik 9, 64–74 (1970). https://doi.org/10.1007/BF00696015

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