X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

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Mutant alleles are frequently characterized by low expression levels. Therefore, cDNA array-based gene expression profiling may be a promising strategy for identifying gene defects underlying monogenic disorders. To study the potential of this approach, we have generated an X chromosome-specific microarray carrying 2423 cloned cDNA fragments, which represent up to 1317 different X-chromosomal genes. As a prelude to testing cell lines from patients with X-linked disorders, this array was used as a hybridization probe to compare gene expression profiles in lymphoblastoid cell lines from normal males, females and individuals with supernumerary X chromosomes. Measurable hybridization signals were obtained for more than half of the genes represented on the chip. A total of 53 genes showed elevated expression levels in cells with multiple X chromosomes and many of these were found to escape X-inactivation. Moreover, the detection of a male-viable deletion encompassing three genes illustrates the utility of this array for the identification of small unbalanced chromosome rearrangements.


  • Ralf Sudbrak
  • Georg Wieczorek
  • Ulrike Nuber
  • Wolfgang Mann
  • Roland Kirchner
  • Fikret Erdogan
  • Carolyn J Brown
  • Doris Wohrle
  • Peter Sterk
  • Vera M Kalscheuer
  • Wolfgang Berger
  • Hans Lehrach
  • Hans-Hilger Ropers
Externa organisationer
  • External Organization - Unknown

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
Sidor (från-till)77-83
TidskriftHuman Molecular Genetics
StatusPublished - 2001
Peer review utfördJa
Externt publiceradJa