SALSA MLPA P415 COL7A1-KRT5 probemix

application: Epidermolysis Bullosa Hereditaria
region: 3p21.31 COL7A1, 12q13.13 KRT5
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version: B1
sold since: 2017-04-03

item no. description price
P415-025R SALSA MLPA P415 COL7A1-KRT5 probemix – 25 rxn € 237
P415-050R SALSA MLPA P415 COL7A1-KRT5 probemix – 50 rxn € 474
P415-100R SALSA MLPA P415 COL7A1-KRT5 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Defects in the COL7A1 gene are the main cause of dystrophic epidermolysis bullosa. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. The COL7A1 gene (118 exons) spans ~31 kb of genomic DNA and is located on chromosome 3p21.31, 49 Mb from the p-telomere.

KRT5 gene mutations responsible for epidermolysis bullosa simplex change the structure and function of keratin 5, preventing it from working effectively with keratin 14 and interfering with the assembly of the keratin intermediate filament network. KRT5 (9 exons) spans ~6 kb of genomic DNA and is located on 12q13.13, 53 Mb from the p-telomere.

The P415-B1 probemix contains 28 probes for COL7A1 and one probe for each exon of the KRT5 gene. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

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

related products
SALSA MLPA P416 KRT14-LAMA3-LAMB3-LAMC2 probemix
Contains probes for the KRT14, LAMA3, LAMB3 and LAMC2 genes, involved in epidermolysis bullosa.

product history
version B1: One target probe has been removed, one reference probe has been replaced and several probes have been adjusted in length.
version A1: changes not specified

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