Multiplex Ligation-Dependent Probe Amplification (MLPA) is used to detect what type of mutational changes?

Multiplex Ligation-Dependent Probe Amplification (MLPA) is specifically designed to detect and quantify copy number changes in DNA, which includes deletions and duplications of genomic regions. This technique utilizes specific probes that bind to target sequences in the DNA, followed by a ligation step that joins adjacent probes. Once ligated, these products are amplified through PCR, allowing for the identification and quantification of specific DNA segments.

The strength of MLPA lies in its ability to simultaneously analyze multiple target sequences, making it an efficient tool for assessing copy number variations across several genes or genomic loci in a single reaction. This is crucial in various clinical applications, such as diagnosing genetic disorders, detecting chromosomal abnormalities, and identifying potential cancer-related mutations.

In contrast, point mutations are typically analyzed using sequencing techniques or specific mutation detection methods, translocations are generally evaluated using methods such as fluorescence in situ hybridization (FISH) or karyotyping, and sequence variations encompass changes in nucleotide sequences that might not result in copy number alterations. Therefore, the use of MLPA is particularly relevant to understanding and addressing copy number changes, confirming that this choice is the most accurate representation of what MLPA is intended to detect.