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Title
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Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
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Author
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Abstract
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| Microdeletions, either subtelomeric or interstitial, are responsible for the mental handicap in approximately 1020% of all patients. Currently, Multiplex Ligation-dependent Probe Amplification (MLPA) is widely used to detect these small aberrations in a routine fashion. Although cost-effective, the throughput is low and the degree of multiplexing is limited to maximally 4050 probes. Therefore, we developed an array-based MLPA method, with probes identified by unique tag sequences, allowing the simultaneous analysis of 180 probes in a single experiment thereby covering all known mental retardation loci with at least two probes. We screened 120 patients with idiopathic mental retardation. In this group we detected 6 aberrations giving a detection rate of 5%, consistent with similar studies. In addition we tested 293 patients with mental retardation who were negative for fragile X syndrome and commercially available subtelomeric MLPA. We found seven causative rearrangements in this group (detection rate of 2.4%) thereby illustrating the value of including probes for interstitial microdeletion syndromes and additional probes in the telomeric regions in targeted screening sets for mental retardation. Array-based MLPA may thus be a good candidate to develop probe sets that rapidly detect copy number changes of disease associated loci in the human genome. This method may become a valuable tool in a routine diagnostic setting as it is a fast, user-friendly and relatively low-cost technique providing straightforward results requiring only 125 ng of genomic DNA. |
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Language
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English
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Source (journal)
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American journal of medical genetics : part A. - Bognor Regis, 2003, currens
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Publication
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Bognor Regis
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2011
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ISSN
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1552-4825
[print]
1552-4833
[online]
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DOI
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10.1002/AJMG.A.33810
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Volume/pages
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155
:2
(2011)
, p. 343-348
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ISI
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000287153700013
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Full text (Publisher's DOI)
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