SALSA MLPA P101 STK11 probemix - 50 reactions

application: Peutz-Jeghers syndrome (PJS)
region: STK11 19p13.3
  Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P101-050R

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Detailní popis SALSA MLPA P101 STK11 probemix - 50 reactions

P101-050R SALSA MLPA P101 STK11 probemix – 50 rxn

PEUTZ-JEGHERS SYNDROME (PJS) is an autosomal dominant disorder, characterised by melanocytic macules of the lip, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of gastrointestinal and various other neoplasms. PJS is caused by defects in the STK11 (=LKB1) tumour suppressor gene. STK11 is frequently inactivated by deletion or by point mutation in several cancer types, including lung and cervical cancer (Sanchez-Cespedes et al. 2002, Cancer Res, 62:3659-62; Gill RK. et al. 2011, Oncogene, 30:3784-91), and inactivation is suggested to be associated with disease progression (Wingo SN. et al. 2009, PLoS One, 4:e5137). This suggests that STK11 has a critical role in tumorigenesis and progression.

The STK11 gene (10 exons) spans ~23 kb of genomic DNA and is located on chromosome 19p13.3. This P101-B2 probemix contains three probes for STK11 exon 1 and one probe each for the other nine exons. In addition, five probes on 19p but outside the STK11 gene are present. The mix further contains 8 reference probes detecting sequences on other chromosomes, as well as 2 denaturation control probes.

Please note that the complete STK11 gene region is extremely CG rich and is therefore difficult to denature. The use of DNA samples containing 40 mM or more salt can result in false positive results that indicate a  complete gene deletion. It is therefore important to use reference DNA samples that have been extracted by the same method as the patient samples. In particular DNA samples purified by the Qiagen EZ1, M48 and M96 methods are prone to DNA denaturation problems as they can contain more than 80 mM salt. High salt concentrations can also be due to evaporation (dried out samples; SpeedVac concentration). In order to detect problems due to incomplete DNA denaturation, two probes (159 nt & 178 nt) that detect sequences in other strong CpG islands have been included in this P101-B2 probemix. A low signal of these two probes and the 88 and 96 nt DNA denaturation control fragments provide a  warning for incomplete DNA denaturation.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of aforementioned gene in a  DNA sample. Heterozygous deletions of recognition sequences should give a  35-50% reduced relative peak height 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 height, 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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