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Detection of copy number changes at the NF1 locus with improved high-resolution array CGH
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2007 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 72, no 3, 238-244 p.Article in journal (Refereed) Published
Abstract [en]

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by various types of mutations in the NF1 gene. We have previously developed a locus-specific DNA microarray for detection of copy number changes at the NF1 locus by comparative genomic hybridization (CGH) analysis. The original array contains 183 probes pooled from 444 polymerase chain reaction (PCR) products. In the current work, we have used 493 probes derived from single PCR products (200-998 bp in size) to construct a higher resolution array with a smaller average probe size for molecular diagnosis of NF1. This has improved the average resolution from 12.6 kb in the previous array to 4.5 kb in the current version. The performance of the newly constructed microarray was validated with 14 well-characterized NF1 mutations for CGH analysis. These mutations represent deletions from ∼7 kb to over 2 Mb in size. Using this array, we examined a total of 55 NF1 patients for copy number changes at the NF1 locus, detecting deletions in four of them. These results demonstrate that a locus-specific microarray constructed from single PCR products can efficiently detect copy number changes at the NF1 locus, providing a simple method for the molecular diagnosis of NF1.

Place, publisher, year, edition, pages
2007. Vol. 72, no 3, 238-244 p.
Keyword [en]
Array CGH, DNA, Microarray, Molecular diagnosis, Mutation detection, NF1
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-16738DOI: 10.1111/j.1399-0004.2007.00858.xISI: 000248969400012PubMedID: 17718862OAI: oai:DiVA.org:uu-16738DiVA: diva2:44509
Available from: 2008-06-03 Created: 2008-06-03 Last updated: 2011-01-26Bibliographically approved

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