Applications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders

Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAPH) and etc. Some of these techniques showed resolution limitations and are not capable to detect deletions or duplications of single exons. Some of them are time consuming (such as FISH) or require large amounts of sample DNA (like southern blots). Multiplex Ligation-dependent Probe Amplification (MLPA) method with its sensitivity and robustness is wildly used in diagnosis and researches for the detection of disease causing gene deletions or amplifications. In comparison with array CGH which analyses the Copy Number Variations (CNVs) at the genome-wide level, MLPA method detects the CNVs over small regions of the genome. The present descriped review MLPA method compared with other techniques along with its new applications such as detecting point mutations, MS-MLPA and RT-MLPA in clinical genetics and research laboratories.