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Abstract
Copy number variants (CNVs) are pervasive in the human genome and are responsible
for many Mendelian diseases and genomic disorders. The detection of CNVs is an essential
element of a complete mutation screening strategy. Many techniques have been developed
for gene dosage testing. Multiplex ligation-dependent probe amplification (MLPA) is
a robust, easy and flexible technique that can detect both deletions and duplications
for more than 40 loci in one assay. It has been widely used in research and diagnostic
laboratories. We routinely develop our own MLPA assays for quick validation of array
comparative genomic hybridization (CGH) findings. Here we discuss the general principles
and critical aspects of MLPA assay development and validation using all synthetic
MLPA probes. We believe that MLPA will play important roles in the rapid detection
of genomic disorders associated with genomic imbalances, the confirmation of pathogenic
mutations involving exonic deletions/duplications, CNV genotyping and population frequency
analysis of CNVs.