The SALSA MLPA
Probemix P336 UBE3A is a research use only (RUO)
assay for the detection of deletions or duplications in the UBE3A
gene, which is associated with Angelman syndrome (AS).
AS is a maternally inherited neurodevelopmental disorder characterized by intellectual disability/mental retardation, ataxia, epilepsy, minimal speech, and characteristic behavioural features. Defects in the UBE3A
gene on chromosome 15q11.2 is one of the causes of AS. The protein encoded by this gene is ubiquitin protein ligase E3A, a part of the ubiquitin protein degradation system. AS individuals fail to inherit a normal active maternal copy of UBE3A
is subject to genomic imprinting, with predominant transcription of the maternal allele in brain.
Besides or along with mutations in the UBE3A
gene, other known genetic causes of AS are maternal deletion of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, and 15q11 imprinting defects. Maternal duplications of 15q11-q13 lead to a distinct condition that often includes autism (Stewart et al. 2011, Hogart et al. 2009). An AS-like phenotype might be caused by aberrations in the MTHFR
gene. Moreover, there has been evidence for linkage of 16p13 to autism (Liu et al. 2012, IMGSAC 2001).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1144/
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.
The SALSA MLPA Probemix P336-B1 UBE3A contains 37 MLPA probes with amplification products between 129 and 454 nucleotides (nt). This includes 18 probes for the UBE3A
gene, one probe for each exon, two probes for exons 5 and 10, and six probes upstream of the gene. Furthermore, this probemix also contains three probes for the GABRB3
gene, targeting exons 2, 4, and 7, and four probes for the MTHFR
gene, targeting exons 3, 5, 8, and 10. In addition, twelve 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.mlpa.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.mlpa.com