SALSA MLPA P359 PLOD1 probemix - 50 reactions

SALSA MLPA P359 PLOD1 probemix - 50 reactions

application: Ehlers Danlos syndrome type VI

region: 1p36.22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P359-050R

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

Detailní popis SALSA MLPA P359 PLOD1 probemix - 50 reactions

P359-050R SALSA MLPA P359 PLOD1 probemix – 50 rxn

description
Ehlers-Danlos syndrome type VI is an inherited connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. Biochemically, it is characterised by a deficiency of collagen lysyl hydroxylase due to mutations in the PLOD1 gene. Next to point mutations, several large gene rearrangements of the PLOD1 gene have been described. Heikkinen et al. (1994) demonstrated extensive homology of intron 9 and intron 16 resulting from the many Alu sequences contained therein. Several Alu sequences are also found in intron 17. These Alu sequences are involved in unequal recombination events resulting in large duplications and deletions, such as the duplication of exons 10-16 and the deletion of 3 kb from intron 16 to intron 17 (Giunta et al., 2005).

The PLOD1 gene (19 exons) spans ~41 kb of genomic DNA and is located on 1p36.22, 12 Mb from the p-telomere. The P359-A1 probemix contains one probe for each exon of the gene with the exception of exon 9. Furthermore 8 reference probes, detecting 8 different autosomal chromosomal locations, are present.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the PLOD1 gene in a DNA sample. 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 this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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