2. Academic Validation
  3. X chromosome inactivation in clinical practice

X chromosome inactivation in clinical practice

  • Hum Genet. 2009 Sep;126(3):363-73. doi: 10.1007/s00439-009-0670-5.
Karen Helene Orstavik 1
Affiliations

Affiliation

  • 1 Department of Medical Genetics, Oslo University Hospital, Rikshospitalet and Faculty Division Rikshospitalet, University of Oslo, Forskningsveien 2B, 0027, Oslo, Norway. k.h.orstavik@medisin.uio.no
PMID: 19396465 DOI: 10.1007/s00439-009-0670-5
Abstract

X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for two cell lines, one with the maternal X and one with the paternal X as the active chromosome. The relative proportion of the two cell lines, the X inactivation pattern, may be analyzed by simple assays in DNA from available tissues. This review focuses on medical issues related to XCI in X-linked disorders, and on the value of X inactivation analysis in clinical practice.

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