SALSA MLPA P312 POR probemix - 50 reactions

SALSA MLPA P312 POR probemix - 50 reactions

Congenital adrenal hyperplasia (CAH).

region: CREBBP 16p13.3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P312-050R

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

Detailní popis SALSA MLPA P312 POR probemix - 50 reactions

P313-025R SALSA MLPA P313 CREBBP probemix – 50 rxn

description
The Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a well-defined multiple congenital anomalies - mental retardation syndrome characterised by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. It occurs generally sporadic, and can be caused by a microdeletion of chromosome 16p13.3, or by a mutation in either CREB-binding protein (CREBBP) or the E1A-binding protein (EP300). Birth prevalence is 1 in 100.000-125.000.

The CREBBP gene comprises 31 exons, spans about 155 kb of genomic DNA and is located at chromosome 16p13.3 (3.8 Mb from p-telomere). EP300 also contains 31 exons, spans about 87 kb of genomic DNA and is located at chromosome 22q13.2 (41.5 Mb from p-telomere). Most individuals with RSTS have point mutations in the CREBBP or the EP300 gene, most of which will not be detected by the MLPA technique. Deletions and duplications of part, or the complete, CREBBP gene has also been described (Roelfsema J.H. et al. 2005, Am. J. Hum. Genet. 76, 572-580). Please note that the P313 probemix is different from the probemix that was used by Roelfsema et al.

This P313-B1 CREBBP probemix contains probes for each of the 31 exons of CREBBP gene (two probes for exons 1, 2 and 3). In addition, it contains three probes for EP300 (exons 1, 4, 12).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) Heterozygous deletions of 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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