SALSA MLPA P337 TSC2 probemix - 50 reactions

Tuberous sclerosis.

region: TSC2 gene, 16p13.3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P337-050R

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

Detailní popis SALSA MLPA P337 TSC2 probemix - 50 reactions

P337-025R SALSA MLPA P337 TSC2 probemix – 50 rxn

description
Tuberous sclerosis is a dominantly inherited disease of high penetrance. Well-known clinical manifestations include epilepsy, learning difficulties, behavioural problems and skin lesions. In addition, many patients have renal lesions. The majority of cardiac rhabdomyomas are associated with tuberous sclerosis.

Approximately 75% of TSC cases are linked to the TSC2 gene located at chromosome 16p13.3. Most of these (~80%) are de novo mutations (sporadic cases). The remaining 25% of TSC cases are linked to the TSC1 gene on 9q34. Most of these patients (~55%) have affected relatives (familial cases). Prevalence is estimated at 1 in approximately 12,000 children under 10 years of age.

This P337-B1 TSC2 probemix contains probes for all of the 42 exons of the TSC2 gene which spans 40.7 kb and is located on chromosome 16p13.3. In addition, it contains two probes for the PKD1 gene located downstream of TSC2 and eight reference probes for sequences located on other chromosomes. As reported by Longa. L. et al (2001), Hum. Genet. 108, 156-166, the prevalence of large deletions within TSC1 and TSC2 mutation-positive patients is similar (approximately 10% each). This has been confirmed in a larger series of patients (Nicola Migone, personal communication). This P337 TSC2 probemix can be used for confirmation of results obtained with the P046 TSC2 MLPA probemix, which we recommend for primary screening. All TSC2 probes in the P337 probemix differ from the probes included in the P046 probemix.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the 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. 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. 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.

Kontaktujte nás

BIOGEN PRAHA s.r.o.
Ke sv. Izidoru 2293/4A
140 00 PRAHA 4

Tel.: +420 241 401 693
Fax: +420 241 401 694
E-mail: biogen@biogen.cz

Novinky na e-mail

Vaše osobní údaje nejsou nikde zveřejňovány a splňují požadavky GDPR.