|
Title
|
|
|
|
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
| |
|
Author
|
|
|
|
| |
|
Abstract
|
|
|
|
| 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. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
| |
|
Publication
|
|
|
|
Bognor Regis
:
2011
| |
|
ISSN
|
|
|
|
1552-4825
[print]
1552-4833
[online]
| |
|
Volume/pages
|
|
|
|
155
:2
(2011)
, p. 343-348
| |
|
ISI
|
|
|
|
000287153700013
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|