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SALSA MLPA KIT P280 Pendred / SLC26A4
[http://www.geneclinics.org/profiles/hht/details.html]
Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). Pendred syndrome is caused by mutations in the SLC26A4 gene, mutations in this gene can also cause enlarged vestibular aqueduct (EVA). The SLC26A4 gene codes for a 780 amino acid protein, pendrin, which functions as an ion transporter. Located on the apical membrane of thyrocytes, it appears to be responsible for the transport of iodide out of the cell into the colloid where iodination of thyroglobulin occurs, catalyzed by the enzyme thyroid peroxidase. In the absence of the transporter, apical iodide transport is defective and thus organification of iodide is defective, the hallmark of Pendred Syndrome. The SLC26A4 gene comprises 21 exons, spanning 57.2 kb of genomic DNA. SLC26A4 is located at 7q31 (107.1 Mb from q telomere). This P280 Pendred-SLC26A4 probemix contains probes for each of the 21 exons of SLC26A4. Additionally, two mutation specific probes have been designed for the IVS8+1G>A donor splice mutation and a T416P amino acid substitution. These mutations have been found frequently in cases of Pendred syndrome. Related SALSA MLPA kits P153 EYA1 - Branchiootorenal syndrome - genes included: EYA1 P163 GJB-WFS1 - DFNB1 & Wolfram syndrome - genes included: GJB2, GJB6, WFS1, ZNF198, SGCG & LATS2 P186 PAX3 - Waardenburg Syndrome - genes included: PAX3, MITF P191/192 Alport syndrome - genes included: COL4A5 This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the SLC26A4 gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in this gene is caused by deletions/duplications of complete exons. Please note that most defects in this gene are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last change in probemix content Current lot number
: lot 1207 (December 2007) : lot 1207
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