General information
The SALSA MLPA
Probemix P321/P322 VPS13B is a
research use only (RUO) assay for the detection of deletions or duplications in the
VPS13B gene, which is associated with Cohen syndrome. The P321 probemix can also be used to detect the presence of 2-bp (CT) deletion (c.3348_3349delCT/C1117fs).
Cohen syndrome is a rare autosomal recessive disorder that is overrepresented in the Finnish and Amish population. The phenotype consists of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair, and low hairline. Defects in the vacuolar protein sorting 13 homolog B (
VPS13B) gene are the main cause of Cohen syndrome.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1482/.
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 P321-B3 VPS13B mix 1 contains 45 MLPA probes with amplification products between 130 and 472 nucleotides (nt). The SALSA MLPA Probemix P322-C3 VPS13B mix 2 contains 43 MLPA probes with amplification products between 130 and 465 nucleotides (nt). The P321 and P322 probemixes include probes for 60 of the 64 exons of the
VPS13B gene. Furthermore, the P321 probemix contains one probe specific for the c.3348_3349delCT mutation which will only generate a signal when the mutation is present. In addition, the P321 probemix contains nine reference probes and the P322 probemix contains ten reference probes, detecting different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
These probemixes each contain 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 SD081
The SD081 Binning DNA provided with the P321 probemix can be used for binning of all probes including the mutation-specific probe (355 nt probe 10072-L10541 c.3348_3349delCT/C1117fs mutation). SD081 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 SD081 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 SD081 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: