Journal Article

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

Ralf Sudbrak, Georg Wieczorek, Ulrike A. Nuber, Wolfgang Mann, Roland Kirchner, Fikret Erdogan, Carolyn J. Brown, Doris Wöhrle, Peter Sterk, Vera M. Kalscheuer, Wolfgang Berger, Hans Lehrach and Hans-Hilger Ropers

in Human Molecular Genetics

Volume 10, issue 1, pages 77-83
Published in print January 2001 | ISSN: 0964-6906
Published online January 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.1.77
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.

Journal Article.  5170 words.  Illustrated.

Subjects: Genetics and Genomics

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