General information
The SALSA MLPA
Probemix P355 Microcephaly is a
research use only (RUO) assay for the detection of deletions or duplications in the
MCPH1,
MCPH2 (
WDR62),
MCPH3 (
CDK5RAP2),
MCPH5 (
ASPM),
MCPH6 (
CENPJ), and
MCPH7 (
STIL) genes, which are associated with primary microcephaly.
Primary microcephaly is characterised by a smaller than normal brain size and variable degree of intellectual disability (Mahmood et al. 2011). It is a genetically heterogeneous disorder, inherited in an autosomal recessive fashion. The incidence is ~1 in 10,000 in consanguineous populations and less in non-consanguineous populations. Defects in the abovementioned genes can be the cause of primary microcephaly. The proteins encoded by these genes all associate with the centrosome, for at least part of the cell cycle (Thornton et al. 2009).
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK9587/
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.
Probemix content
The SALSA MLPA Probemix P355-B1 Microcephaly contains 46 MLPA probes with amplification products between 130 and 499 nucleotides (nt). This includes eight probes for the
MCPH1 gene, one probe for the
WDR62 gene, six probes for the
CDK5RAP2 gene, 14 probes for the
ASPM gene, four probes for the
CENPJ gene, and four probes for the
STIL gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.