General information
The SALSA MLPA
Probemix P199 HEXA is a
research use only (RUO) assay for the detection of deletions or duplications in the
HEXA gene, which is associated with Tay-Sachs disease. This probemix can also be used to detect the presence of the c.1278insTATC (also known as c.1274_1277dupTATC (p.Tyr427Ilefs) and 1277TATC) and IVS12+1G>C (also known as c.1421+1G>C) mutations.
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder, which is in the classic infantile form usually fatal before the age of two or three 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. The c.1278insTATC mutation is found in 80% of the carriers of Tay-Sachs disease from the Ashkenazi Jew population. A 7.6-kb genomic deletion of the
HEXA promoter and exon 1 is the major mutation found in Tay-Sachs disease carriers from the French-Canadian population.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1218/.
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 P199-B3 HEXA contains 28 MLPA probes with amplification products between 142 and 364 nucleotides (nt). This includes 18 probes for the
HEXA gene, among which two probes specific for the
HEXA c.1278insTATC and IVS12+1G>C mutations are present. These mutation specific probes will only generate a signal when the mutations are present. 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.
SALSA Binning DNA SD030
The SD030 Binning DNA provided with this probemix can be used for binning of all probes including the two mutation-specific probes (
HEXA probe 06722-L06309 for the c.1278insTATC mutation and
HEXA probe 06724-L06312 for the IVS12+1G>C mutation). SD030 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD030 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD030 Binning DNA product description, available online:
www.mrcholland.com.
This product is for research use only (RUO).
Sample DNA
Sample DNA developed for this product: