General information
The SALSA MLPA Probemix P029 WBS is a
research use only (RUO) assay for the detection of deletions or duplications in the WBS critical region (WBSCR) on the 7q11.23 chromosomal region, which is associated with Williams-Beuren syndrome (WBS).
Williams-Beuren Syndrome (WBS) is an autosomal dominant disorder characterised by cardiovascular disease, distinctive facial features, connective tissue abnormalities, intellectual disability, a specific cognitive profile, unique personality characteristics, growth abnormalities and endocrine abnormalities. WBS is estimated to occur at a frequency of approximately 1 in 7500 live births (Morris 1999).
Deletions of the WBSCR on 7q11.23, including the
ELN gene, are the main cause of WBS. Besides deletions of the WBS region, some duplications have also been described, giving rise to the Williams-Beuren duplication syndrome (OMIM 609757). The commonly deleted or duplicated chromosomal region has a size of 1.55 Mb (90-95%) or 1.84 Mb (5-10%) and is flanked by highly homologous DNA sequences. However, smaller deletions within the WBSCR, with a variable phenotype, have also been described.
More information is available at
http://www.ncbi.nlm.nih.gov/books/NBK1249/
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 P029-C1 WBS contains 37 MLPA probes with amplification products between 132 and 427 nucleotides (nt). This includes 28 probes for the 7q11.23 chromosomal region. In addition, 9 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.