Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.

ABSTRACT:

Background

As a result of the epigenetic phenomenon of X chromosome inactivation (XCI) every woman is a mosaic of cells with either an inactive paternal X chromosome or an inactive maternal X chromosome. The ratio between inactive paternal and maternal X chromosomes is different for every female individual, and can influence an X-encoded trait or disease. A multitude of X linked conditions is known, and for many of them it is recognised that the phenotype in affected female carriers of the causative mutation is modulated by the XCI ratio. To predict disease severity an XCI ratio is usually determined in peripheral blood samples. However, the correlation between XCI ratios in peripheral blood and disease affected tissues, that are often inaccessible, is poorly understood. Here, we t

SUBMITTER: de Hoon B 

PROVIDER: S-EPMC4680131 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature