Úvod Reagencie Hereditary cancer SALSA MLPA P002 BRCA1 probemix - 100 reactions

SALSA MLPA P002 BRCA1 probemix - 100 reactions

application: Hereditary breast cancer (BRCA1)
region: BRCA1 17q21.31
  Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Na dotaz
Kód produktu P002-100R

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

Detailní popis SALSA MLPA P002 BRCA1 probemix - 100 reactions

P002-100R SALSA MLPA P002 BRCA1 probemix – 100 rxn

MRC-Holland has prepared a mixture of female genomic DNA from healthy individuals and a carefully titrated amount of plasmid that contains the target sequence recognised by several probes present in the selected MLPA probemixes. The use of SD024 in MLPA reactions performed with the selected MLPA probemixes will therefore show a duplication of several sequences. This SD024 can be ordered separately.

Intended use: This SALSA MLPA probemix P002 BRCA1 is a research use only (RUO) assay for the detection of exon deletions or duplications in the human BRCA1 gene and is not intended to be used as a standalone assay for clinical decisions. Most defects in the BRCA1 gene are point mutations, the majority of which will not be detected by MLPA. It is therefore recommended to use this SALSA MLPA probemix in combination with sequence analysis.

Clinical background: Germline defects in the BRCA1 gene are the most frequent cause of a hereditary predisposition to breast cancer. Features characteristic of hereditary, versus sporadic, breast cancer are: younger age at diagnosis, frequent bilateral disease, and more frequent occurrence of disease among male relatives. More information is available on http://www.ncbi.nlm.nih.gov/books/NBK1247/

Among the various defects in the BRCA1 gene that have been found in patients are deletions and duplications of complete exons, which are usually missed by standard sequence analysis. The MLPA technique can detect most of these deletions and duplications and therefore complements sequence analysis of the BRCA1 gene. The expected number of BRCA1 chromosomal rearrangements that can be detected with this MLPA probemix is between 3 and 19% of all BRCA1 mutations in most populations (Smith LD et al. 2011; Sluiter MD et al. 2011).
See below for several publications on probemix P002 BRCA1.

MLPA technique: The principles of the MLPA technique are described in the MLPA General Protocol.

P002-D1 probemix content: This SALSA MLPA probemix P002 BRCA1 contains 48 MLPA probes with amplification products between 130 and 469 nt: 38 probes for the BRCA1 gene region (Table 2) and 10 reference probes that detect sequences outside this region.

At least one MLPA probe is present for each exon in the major BRCA1 transcript variant 1. Eight probes are present for exon 11 which is very long (3426 nt). Three probes are present for exon 13 which is frequently deleted or duplicated. Three probes are present for exon 24 and two for exon 16. One probe is included for exon 1b, which is the first exon in transcript variants 3 and 5, and two probes detect sequences located 4.6 kb and 0.7 kb upstream of the BRCA1 gene.

This probemix contains nine quality control fragments generating an amplification product between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), three DNA Denaturation Fragments (D-fragments), one chromosome X and one chromosome Y-specific fragment (Table 1). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol.

Positive controls: In case no positive DNA sample is available in your laboratory, an artificial positive duplication DNA sample for BRCA (product name SD024) can be ordered from MRC-Holland. This SD024 DNA will show a duplication of three probes when using the following probemixes: P002 and P087 BRCA1; P045, P090 and P077 BRCA2. The SD024 DNA is a mixture of human female DNA and a carefully titrated amount of linearised plasmid containing some of the probe target sequences.


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