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SALSA MLPA KIT P156 GALT
[http://www.geneclinics.org/profiles/hht/details.html]
Classic galactosemia, an inherited disorder of galactose metabolism, is caused by defects of the GALT gene, encoding galactose-1-phosphate uridyltransferase. Failure to thrive is the most common initial clinical symptom of galactosemia. The cardinal features of classic galactosemia are hepatomegaly, cataracts, and mental retardation. After exclusion of galactose from the diet, these signs and symptoms normalized. Birth incidence of classic galactosemia is estimated to be 1 per 47,000 in the white population. The GALT gene has 11 exons, spans 3,4 kb of chromosomal sequence and is located on chromosome 9p13. This P156-GALT kit contains MLPA probes for 10 GALT exons. Two probes are present for exon 1 sequences. No probe is included for exon 3. One probe for the IL11RA gene just downstream of GALT is included in this probemix. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the GALT 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 these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 03; 06-08-2007 Last change in probe mix content: Lot 0106 (Jan-2006) Current Lot Number.: Lot 0106
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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