General information
The SALSA MLPA
Probemix P025 Canavan disease is a
research use only (RUO) assay for the detection of deletions or duplications in the
ASPA gene, which is associated with Canavan disease.
Canavan disease is an autosomal recessive disorder, characterised by a spongy degeneration of the central nervous system, resulting in blindness, megalocephaly, severe mental defects, atonia of neck muscles, and hyperextension of legs and flexion of arms. Although average life expectancy of Canavan patients is only 18 months, several congenital, infantile, and late-onset forms of Canavan disease have been reported.
Canavan disease is caused by defects in the
ASPA gene on chromosome 17p13.3, 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 as aspartoacylase activity is low or undetectable in direct or cultured normal chorionic villi and in normal cultured amniocytes. Although Canavan disease occurs in people from all ethnic backgrounds, it is most common in people from Ashkenazi Jewish heritage. In this population, patients mostly carry one or more of the three common point mutations, E285A, Y231X, and A305E. In other populations, a variety of mutations have been found, including deletions of one or more
ASPA exons.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1234/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P025-A5 Canavan disease contains 21 MLPA probes with amplification products between 141 and 355 nucleotides (nt). This includes seven probes for the
ASPA gene and four flanking probes for the 17p12-p13 region: two probes each located in the upstream and downstream region of the
ASPA gene. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and 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.mrcholland.com.