X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance |
| |
Authors: | Peter,Wieacker ,Jü rgen,Zimmer Hans-Hilger, Ropers |
| |
Affiliation: | Universitäts-Frauenklinik, Freiburg;Institut für Humangenetik und Anthropologic, Freiburg, F.R.G. |
| |
Abstract: | For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by normal cells. This would imply a preferential inactivation of the X chromosome carrying the IP gene with a proliferative advantage of this cell population. We have confirmed this hypothesis by demonstrating that the same X chromosome is preferentially active in fibroblasts grown from normal and hyperpigmented skin of an affected girl. In contrast, X inactivation was random in a girl with Aicardi syndrome. |
| |
Keywords: | Aicardi syndrome incontinentia pigmenti Bloch-Sulzberger restriction fragment length polymorphism X inactivation somatic cell hybrids |
|
|