SALSA MLPA P013 ATRX probemix

application: Alpha-Thalassemia/Mental Retardation
region: ATRX ; Xq13
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version: A2
sold since: 2015-04-20

item no. description price
P013-025R SALSA MLPA P013 ATRX probemix – 25 rxn € 237
P013-050R SALSA MLPA P013 ATRX probemix – 50 rxn € 474
P013-100R SALSA MLPA P013 ATRX 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
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX. X-linked nuclear protein (XNP) or X-linked helicase II is a protein that is encoded by ATRX. Mutations in the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome.

The ATRX gene (35 exons) spans ~281 kb of genomic DNA and is located on Xq21.1, 77.5 Mb from the p-telomere. The P013-A2 probemix contains one probe for each exon of the gene and two probes for exons 9 and 35. In addition, 9 reference probes are included in this probemix, detecting several different chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned ATRX gene in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35 50% reduction in relative peak height. 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 P106 MRX probemix
Contains probes for genes involved in X-linked mental retardation
SALSA MLPA P140 HBA probemix
Contains probes for the 16p HBA region, involved in alpha-thalassemia

product history
version A2: three reference probes have been replaced and the control fragments adjusted (QDX2).
version A1: changes not specified

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