Detection of nonrandom X chromosome inactivation

Curr Protoc Hum Genet. 2003 Feb:Chapter 9:Unit9.7. doi: 10.1002/0471142905.hg0907s35.

Abstract

This unit describes a PCR-based assay for distinguishing between the two X chromosomes in female cells and assessing the percentage of cells having each parental X chromosome active. Methylation of CpG residues in gene promoters is a major mechanism of transcriptional silencing. In mammalian female cells, hypermethylation is the way in which one X chromosome is inactivated. The X-inactivation assay described in the Basic Protocol relies on methylation sensitivity. In this unit, the highly polymorphic and therefore typically heterozygous (CAG)n region of the 5 end of the coding region of the human androgen receptor gene (HUMARA), at Xq11.2, is used to distinguish and compare the methylation activity of the X chromosomes.

MeSH terms

  • Animals
  • CpG Islands
  • DNA Methylation
  • Gene Silencing
  • Humans
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Receptors, Androgen / genetics
  • X Chromosome Inactivation*

Substances

  • Receptors, Androgen