SALSA MLPA P199 HEXA probemix - 100 reactions

application: Tay-Sachs Disease
region: HEXA 15q23 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P199-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P199 HEXA probemix - 100 reactions

P199-100R SALSA MLPA P199 HEXA probemix – 100 rxn


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age of 2 or 3 years. Defects in the HEXA gene encoding the alpha subunit of the hexosaminidase enzyme are the cause of Tay-Sachs disease. Some less severe defects in the HEXA gene cause a late onset form of the disease. Due to some founder mutations, Tay-Sachs disease is frequent among Ashkenazi Jews. This P199-B1 probemix is primarily intended for the detection of copy number changes of (parts of) the HEXA gene but also contains two probes that are specific for frequent Ashkenazi Jew founder mutations.

The HEXA gene comprises 14 exons, spanning more than 32 kb of genomic DNA on chromosome 15q23. This P199-B1 HEXA probemix contains 20 MLPA probes for HEXA sequences. Two of these probes are specific for certain frequent point mutations: 1277TATC (166 nt) and IVS12+1G>C (172 nt). The 1277TATC mutation is found in 80% of the carriers of Tay-Sachs disease from the Ashkenazi Jew population. A deletion of 7.5 kb, including all of exon 1, is the major mutation found in Tay-Sachs disease carriers from the French-Canadian population. In addition, 11 reference probes are included in this probemix detecting several different autosomal chromosomal locations.

SD030 Sample DNA
Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the point mutation! This SD030 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probes (see next page).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene and to detect the presence of the aforementioned mutations in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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