The SALSA MLPA
Probemix P106 X-linked ID is a research use only (RUO)
assay for the detection of deletions or duplications in several genes on the X chromosome, which are associated with X-linked intellectual disability (XLID).
Intellectual disability (ID) - used to be known as mental retardation (MR) - is estimated to occur in about 2-3% of the population. Among intellectually disabled patients, an excess of males over females has long been noted, which is usually explained by the presence of many genes responsible for ID on the X chromosome (Ropers and Hamel 2005).
XLID is usually divided into a syndromic and a non-syndromic form. In syndromic forms (S-XLID), ID is present in association with a specific pattern of physical, neurological, and/or metabolic abnormalities. The term non-specific or non-syndromic XLID (NS-XLID) was introduced to indicate a condition segregating in an X-linked manner in which male patients have no consistent phenotypic manifestations other than ID. Many different genes responsible for both forms of XLID have been identified (Ropers and Hamel 2005).
This P106 X-linked ID MLPA probemix can be used to detect copy number changes of several genes on the X chromosome that have been implicated in XLID: RPS6KA3, ARX, IL1RAPL1, TSPAN7, PQBP1, HUWE1, OPHN1, ACSL4, PAK3, DCX, AGTR2, ARHGEF6, FMR1, AFF2, SLC6A8
. For all genes, probes are present for only some of the exons.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
The SALSA MLPA Probemix P106-D1 X-linked ID contains 46 MLPA probes with amplification products between 130 and 481 nucleotides (nt). The probes detect sequences in the 16 genes described above. Complete probe sequences are available online (www.mlpa.com
This probemix contains ten quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and two chromosome Y-specific fragments. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com