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Aquarius® Microdeletion Syndrome probes

XIST LPU018 - Detail

One X chromosome is inactivated (Xi) in each cell of a female in order to achieve transcriptional balance. An X linked inactivation centre (Xic) is responsible for the initiation of X inactivation. The exact size of the Xic is unclear but it includes the XIST gene (X-inactivation Locus) at Xq13.2. Upregulation of XIST to high levels occurs on the chosen inactive (Xi) chromosome and repression of XIST on the active (Xa) one1. Very small ring r(X) chromosomes that do not include XIST have been described with a more severe phenotype in syndromes such as Turner Syndrome 2, 3.

Reference:/Bibliographie/Literatur/Bibliografia
  1. Boumil R.M. and Lee J.T., et al (2001) Hum Mol Genet 10 (20): 2225-2232
  2. Le Caignec C., et al (2003) Prenat Diagn 23 (2): 143-145
  3. Bouayed Abdelmoula N., (2004) Ann Genet 47 (3): 305-313
Cytocell Aquarius

XIST Probe

Cat. No. LPU 018-S (5 tests)

Cat. No. LPU 018 (10 tests)

XIST Probe

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