SALSA MLPA P439 COL4A3 probemix

application: Alport Syndrome
region: 02q36.3
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version: B1
sold since: 2017-03-20

item no. description price
P439-025R SALSA MLPA P439 COL4A3 probemix – 25 rxn € 237
P439-050R SALSA MLPA P439 COL4A3 probemix – 50 rxn € 474
P439-100R SALSA MLPA P439 COL4A3 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
Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies. It is a genetically heterogeneous disorder, with all forms resulting from mutations in the genes encoding the alpha-3 (COL4A3; 2q36.3), alpha-4 (COL4A4; 2q36.3), and alpha-5 (COL4A5; Xq22.3) chains of type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X linked (mutations in COL4A5), and about 15% are caused by homozygous or compound heterozygous mutations in COL4A3 and COL4A4. In some rare cases, COL4A3 or COL4A4 mutations develop autosomal-dominant Alport syndrome.

The COL4A3 gene (52 exons) spans ~150 kb of genomic DNA and is located on 2q36.3, 228 Mb from the p telomere. The P439-B1 probemix contains probes for 32 out of the 52 exons of the gene. In addition, 9 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.

product history
version B1: One target probe has been removed and two probe lengths have been adjusted.
version A1: changes not specified

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