Abstract |
The human chromosome X is closely associated with congenital disorders and mental retardation (MR), because it contains a significantly higher number of genes than estimated from the proportion in the human genome. We constructed a high-density and high-resolution human chromosome X array (X-tiling array) for comparative genomic hybridization (CGH). The array contains a total of 1,001 bacterial artificial chromosome (BACs) throughout chromosome X except pseudoautosomal regions and two BACs specific for Y. In four hybridizations using DNA samples from healthy males, the ratio of each spotted DNA was scattered between -3SD and 3SD, corresponding to a log(2) ratio of -0.35 and 0.35, respectively. Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. Furthermore, array-CGH in a patient with atypical Schinzel-Giedion syndrome disclosed a 1.1-Mb duplication at Xq22.3 including a part of the IL1RAPL2 gene as a likely causative aberration. The results indicate our in-house X-tiling array to be useful for the identification of cryptic copy-number aberrations containing novel genes responsible for diseases such as congenital disorders and X-linked MR.
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Authors | Shin Hayashi, Shozo Honda, Maki Minaguchi, Yoshio Makita, Nobuhiko Okamoto, Rika Kosaki, Torayuki Okuyama, Issei Imoto, Shuki Mizutani, Johji Inazawa |
Journal | Journal of human genetics
(J Hum Genet)
Vol. 52
Issue 5
Pg. 397-405
( 2007)
ISSN: 1434-5161 [Print] England |
PMID | 17406783
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- IL1RAPL2 protein, human
- Interleukin-1 Receptor Accessory Protein
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Topics |
- Chromosomes, Artificial, Bacterial
- Chromosomes, Human, X
- Gene Dosage
- Genetic Diseases, X-Linked
(genetics)
- Humans
- Interleukin-1 Receptor Accessory Protein
(genetics)
- Male
- Mental Retardation, X-Linked
(genetics)
- Microarray Analysis
(methods)
- Nucleic Acid Hybridization
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