SALSA MLPA P029 WBS probemix - 100 reactions

application: Williams-Beuren syndrome
region: WBS criticial region 7q11.23 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P029-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P029 WBS probemix - 100 reactions

P029-100R SALSA MLPA P029 WBS probemix – 100 rxn

Williams-Beuren Syndrome (WBS) is an autosomal dominant disorder which in full-blown form includes supravalvular aortic stenosis (SVAS), multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcaemia. These traits are often not all present in patients. Although WBS patients usually perform poorly on standard IQ tests, they have often remarkable musical and verbal abilities as well as an engaging personality. The Williams-Beuren syndrome is estimated to occur at a frequency of approximately 1 in 7500 live births. More information is available on http://www.ncbi.nlm.nih.gov/books/NBK1249/

A deletion on the 7q11.23 chromosomal region, including the ELN gene is found in approximately 90-95% of the clinically typical WBS patients but in a lower percentage of atypical cases. The commonly deleted or duplicated chromosomal region has a size of approximately 1.5 to 1.8 Mb and is flanked by two highly homologous DNA sequences. However, smaller deletions involving only the ELN gene or the ELN and LIMK1 genes have also been described in SVAS and atypical WBS patients.

This P029-B1 probemix contains 10 probes detecting sequences in the ELN gene, 15 probes that detect sequences outside ELN but within the commonly deleted WBS region, and 5 probes in 1q11 but outside the WBS region. Finally, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a  reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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