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SALSA MLPA KIT P025 CANAVAN DISEASE
CANAVAN DISEASE is a disease that results in spongy degeneration of the central nervous sytem, resulting in blindness, megalocephaly, severe mental defects, atonia of neck muscles and hyperextension of legs and flexion of arms. Although average life expection of Canavan patients is only 18 months, several congenital, infantile and late-onset forms of Canavan disease have been reported. The cause of Canavan disease is a defect in the ASPA gene on chromosome 17pter-p13, coding for aspartoacylase. Diagnosis can be performed by measuring aspartoacylase activity in cultured fibroblasts. DNA methods detecting the gene defect are desirable for prenatal diagnosis because aspartoacylase activity is low or undetectable in direct or cultured, normal chorionic villi and in normal cultured amniocytes. The great majority of Canavan patients are of Jewish ancestry and are caused by 3 different point mutations. In non-Jewish patients a variety of mutations are found including deletions of one or more ASPA exons. An inframe deletion of exon 4 appears to be a founder mutation in patients of Turkish origin. The ASPA gene spans 29 Kb of genomic sequence and consists of 6 exons. This MLPA test contains probes for each ASPA exon, as well as 3 control probes detecting other chromosome 17p13 sequences and 14 control probes detecting sequences elsewhere. Two probes are present for ASPA exon 1.
Full mix description (pdf)
Last change in probe mix content: Lot 0407 (April 2007) Current Lot Number.: Lot 0407
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 2006 -- Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
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