SALSA MLPA P336 UBE3A probemix - 50 reactions


region: UBE3A, MTHFR, GABRB3, AXIN1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P336-050R

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Detailní popis SALSA MLPA P336 UBE3A probemix - 50 reactions

P336-025R SALSA MLPA P336 UBE3A probemix – 50 rxn

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ataxia, seizures, EEG abnormalities and bouts of inappropriate laughter. AS individuals fail to inherit a normal active maternal copy of ubiquitin protein ligase E3A (UBE3A). UBE3A is subject to genomic imprinting, with predominant transcription of the maternal allele in brain. The known genetic causes of AS are maternal deletion of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, UBE3A mutations and 15q11 imprinting defects. Maternal duplications of 15q11-q13 lead to a distinct condition that often includes autism (Hogart et al., 2009). Mimicking conditions for AS are found in MTHFR gene. Homozygosity for the MTHFR 677C>T variant (A222V) might increase the risk of a maternal imprinting defect (Williams et al., 2001, Zogel et al., 2006). There has been some evidence for linkage of 16p13 to autism (IMGSAC 2001)

The UBE3A gene (14 exons) spans ~102 kb of genomic DNA and is located on 15q11, 23.1 Mb from the p-telomere. The GABRB3 (9 exons) spans ~230 kb of genomic DNA and is located on 15q13, 24.3 Mb from the p-telomere. The MTHFR (12 exons) spans ~20 kb of genomic DNA and is located on 1p36, 11.8 Mb from the p-telomere. The P336-A1 probemix contains one probe for each exon of UBE3A and two probes for exons 1, 2, 9 and 14. In addition, 3 probes for GABRB3, 4 probes for MTHFR copy number changes and one probe for the MTHFR A222V mutation have been included. This probemix also contains four probes for the 16p13 region, including probes for the AXIN1 gene. Finally, 13 reference probes are included in this probemix, detecting 10 different autosomal chromosomal locations.

No probes are present in P336-A1 for the AS-SRO region. Probes for this region, located within the SNRPN gene, are present in the ME028 probemix. ME028 is the primary MLPA kit for PWS / Angelman syndrome, detecting both copy number changes and imprinting defects of the 15q11 region. This P336 UBE3A MLPA probemix may be useful for AS cases where no defect was apparent when using the ME028 kit.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) and to detect the presence of the aforementioned mentioned point mutation in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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