SALSA MLPA P013 ATRX probemix

Application: Alpha-thalassemia X-linked intellectual disability syndrome (ATRX)
Region: ATRX Xq21.1
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Item no. Description Price
P013-025R SALSA MLPA P013 ATRX probemix – 25 rxn € 243
P013-050R SALSA MLPA P013 ATRX probemix – 50 rxn € 486
P013-100R SALSA MLPA P013 ATRX probemix – 100 rxn € 972
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 300
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 300
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1380
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1380
To perform MLPA, both a probemix and reagent kit are needed.

Description
General Information: The SALSA MLPA Probemix P013 ATRX is a research use only (RUO) assay for the detection of deletions or duplications in the ATRX gene, which is associated with Alpha-thalassemia X-linked mental retardation (ATRX) syndrome.

ATRX syndrome is characterized by distinctive craniofacial features - like microcephaly, telecanthus, widely spaced eyes, short nose -, genital anomalies, severe developmental delays, intellectual disability, hypotonia, skeletal anomalies, and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex. ATRX syndrome is inherited in an X-linked manner. The mother may be a carrier or the affected individual may have a de novo mutation. Female carriers have a 50% chance in each pregnancy of transmitting the ATRX pathogenic variant.

The ATRX gene encodes for the transcriptional regulator ATRX protein. The zinc finger domain functions as a transcription factor and the helicase domains function in the transcription process opening double-stranded DNA. In combination with other chromatin-associated proteins, the ATRX protein appears to play a role in chromatin remodelling, possibly silencing gene expression during development. The mutated ATRX protein downregulates the α-globin locus, resulting in thalassemia, and probably suppresses expression of other genes by disturbances in transcription and chromatin structure, leading to malformations and intellectual disability.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1449/.

Probemix content: The SALSA MLPA Probemix P013-A2 ATRX contains 46 MLPA probes with amplification products between 130 and 490 nt. This includes 37 probes for the ATRX gene, with one probe for every exon and two probes for exons 9 and 35. In addition, nine reference probes are included and detect different regions on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

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
Current version: A2, sold since: 2015-04-20.

Version A2: three reference probes have been replaced and the control fragments adjusted (QDX2).
Version A1: Changes not specified

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