General information
The SALSA MLPA
Probemix P338 GBA is a
research use only (RUO) assay for the detection of deletions or duplications in the
GBA gene, which is associated with Gaucher disease. This probemix can also be used to detect the presence of the 55-bp deletion (c.1265_1319del) in
GBA exon 9 and the c.1448T>C point mutation (p.L444P; also known as p.L483P) in
GBA exon 10.
Gaucher disease is an autosomal recessive lysosomal storage disorder that is caused by a deficiency in beta-glucocerebrosidase enzyme activity. Beta-glucocerebrosidase is a lysosomal protein that cleaves the beta-glucosidic linkage of glucosylceramide (GlcCer, glucosylcerebroside), an intermediate in glycolipid metabolism. As a result of beta-glucocerebrosidase deficiency, there is intracellular accumulation of glucosylceramide primarily within cells of mononuclear phagocyte origin. This accumulation of fatty materials transforms the cells into so-called ‘Gaucher cells’ with a characteristic crumpled tissue paper appearance. Beta-glucocerebrosidase is encoded by the
GBA gene on chromosome 1q22. Defects in the
GBA gene are the main cause of Gaucher disease.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1269/.
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 P338-B2 GBA contains 23 MLPA probes with amplification products between 155 and 363 nucleotides (nt). This includes nine probes for the
GBA gene and three flanking probes. The
GBA exon 9 probe will generate a lower signal when the 55-bp deletion (c.1265_1319del) is present. The
GBA exon 10 probe will generate a lower signal when the c.1448T>C mutation (p.L444P; also known as L483P) is present. In addition, 11 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.