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

نویسندگان

  • R Sudbrak
  • G Wieczorek
  • U A Nuber
  • W Mann
  • R Kirchner
  • F Erdogan
  • C J Brown
  • D Wöhrle
  • P Sterk
  • V M Kalscheuer
  • W Berger
  • H Lehrach
  • H H Ropers
چکیده

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.

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عنوان ژورنال:
  • Human molecular genetics

دوره 10 1  شماره 

صفحات  -

تاریخ انتشار 2001