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SALSA MLPA KIT P205 XLP
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
X-LINKED LYMPHOPROLIFERATIVE SYNDROME ((XLP; Duncan disease; OMIM308240) is characterized by extreme sensitivity to infection with Epstein-Barr virus, which results in a complex phenotype manifested by severe or fatal mononucleosis, acquired hypogammaglobulinemia, and malignant lymphoma. Defects in the SH2D1A gene on chromosome Xq25 are the main cause of XLP. The protein encoded by this gene, SH2D1A (SAP ; SLAM binding protein) is a natural inhibitor of the SLAM protein which is involved in the stimulation of T and B cells. Deletions of exon 1 of SH2D1A have also been described in patients with hemophagocytic lymphohistiocytosis (HPLH ; OMIM 267700). The SH2D1A gene comprises 4 exons, spanning about 27 kb of genomic DNA. The majority of individuals with XLP have point mutations in the SH2D1A gene, most of which will not be detected by the MLPA technique. Deletions of part or the complete SH2D1A gene have also been described, however. This P205 XLP probe mix contains two probes for each of the four exons. In addition, it in contains several control probes on the X chromosome, two autosomal control probes and a Y chromosome specific probe. This MLPA kit is designed to detect deletions/duplications of one or more exons of the SH2D1A genes. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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 are caused by deletions/duplications of complete exons.
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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 0606 (June 2006) : lot 1106
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