Three New Loci for Determining X Chromosome Inactivation Patterns

The analysis of X chromosome inactivation (XCI) patterns is a widely used diagnostic tool in clinical practice when investigating X-linked diseases. The most commonly used assay to determine XCI patterns takes advantage of a locus within the androgen receptor (AR) gene. This PCR-based assay relies on two differentially methylated restriction enzyme sites (HpaII) and a polymorphic repeat located within this locus. Although highly informative,...