SALSA MLPA P329 CRLF2 probemix - 50 reactions

SALSA MLPA P329 CRLF2 probemix - 50 reactions

ALL.

region: Xp22.33 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P329-050R

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

Detailní popis SALSA MLPA P329 CRLF2 probemix - 50 reactions

P329-025R SALSA MLPA P329 CRLF2-CSF2RA-IL3RA probemix – 50 rxn

description
The first 3 Mb of the X and Y chromosomes is identical and is called the pseudoautosomal region 1 (PAR1). Among the few genes in this region are SHOX (short stature homeobox gene), CRLF2, CSF2RA and IL3RA. The chromosomal region containing these latter three genes has been linked to schizophrenia and to lymphoid cell transformations in B-cell acute lymphoblastic leukaemia (ALL).

This P329 probemix contains 35 MLPA probes in this Xp22.33 PAR1 region and is primarily intended for ALL research. Russell et al. and Mullighan et al. recently reported frequent rearrangements in the PAR1 region. These involved a deletion of the IL3RA and CSF2RA genes resulting in the overexpression of the CRLF2 gene in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. Please note that we identified a duplication of the complete CRLF2 gene in one of our (not ALL related) reference samples. The occurrence of genomic copy number changes in healthy individuals can be verified in the database of genomic variants (http://dgv.tcag.ca/dgv/app/home).

The IL3RA gene (12 exons) spans ~46 kb of genomic DNA and is located 1.4 Mb from the p-telomere. The CSF2RA gene (13 exons) spans ~41 kb of genomic DNA and is located 1.4 Mb from the p-telomere. The CRLF2 gene (6 exons) spans ~17 kb of genomic DNA and is located 1.3 Mb from the p-telomere. The P329-A2 probemix contains one probe for each exon of the IL3RA gene with the exception of exons 4, 5, 10 and 11; one probe for each exon of the CSF2RA gene and one probe for each exon of the CRLF2 gene with the exception of exon 1. Furthermore, several other probes for the Xp22.33 region are present, including probes for the region between SHOX and IL3RA that is known to contain SHOX enhancer sequences. Finally, 11 reference probes are included in this probemix, detecting 11 different autosomal chromosomal locations.

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

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