General information
The SALSA MLPA Probemix P038 CLL-2 is a
research use only (RUO) assay for the detection of deletions or duplications in the genes/chromosomal regions implicated in B-cell chronic lymphocytic leukemia (B-CLL) such as: 10q23 (
PTEN), 11q (
ATM), chromosome 12, 13q14 (
RB1,
DLEU1/2), 14q, 17p13 (
TP53) and chromosome 19. This probemix can also be used to detect the presence of the
NOTCH1 c.7541-7542delCT (p.P2514Rfs*4),
SF3B1 c.2098A>G (p.K700E) and
MYD88 c.794T>C (p.L265P, also known as p.L252P) point mutations.
B-CLL is the most common hematologic neoplasm in Western countries and results in the progressive accumulation of morphologically mature but functionally incompetent CD5(+) CD23(+) B lymphocytes in the bone marrow, blood, spleen and lymph nodes of the affected person. Chromosomal translocations are rare events in B-CLL. Copy number changes of certain chromosomal regions are, however, frequent. Some of these have been found to be highly prognostic markers of this disease.
More genomic regions affected by copy number alterations (CNAs) in CLL are targeted by the P037 CLL-1 probemix containing probes for 2p (
MYCN,
ALK,
REL), 6q (
TNFAIP3), 8p (
TNFRSF10A/B), 8q (
EIF3H,
MYC), 9p21 (
CDKN2A/B), 11q (
ATM), chromosome 12, 13q14 (
RB1, MIR15A, DLEU2/7) and
TP53. Moreover, the P040 CLL probemix contains a selection of target genes and regions from P037 and P038 allowing copy number determination of 11q, chromosome 12, 13q14 and 17p13. Other related probemixes can be found on page 10 of the Product Description.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK470433/
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 P038-B2 CLL-2 contains 51 MLPA probes with amplification products between 130 and 500 nucleotides (nt). This includes 35 probes for 10q23 (
PTEN), 11q (
ATM), chromosome 12, 13q14 (
RB1, DLEU1/2), 14q, 17p13 (
TP53) and chromosome 19. Furthermore, this probemix also contains three probes specific for the
NOTCH1 c.7541-7542delCT (p.P2514Rfs*4),
SF3B1 c.2098A>G (p.K700E) and
MYD88 c.794T>C (p.L265P, also known as p.L252P) mutations which will only generate a signal when the mutation is present. In addition, 13 reference probes are included that target relatively copy number stable regions in CLL. The identity of the genes detected by the reference probes is available in Table 3 of the Product Description. Complete probe sequences 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 SD009
The SD009 Binning DNA provided with this probemix can be used for binning of all probes including the three mutation-specific probes (SF3B1 probe 17802-SP0549-L21900 c.2098A>G=p.K700E, MYD88 probe 17803-L22642 c.794T>C=p.L265P (also known as c.755T>C=p.L252P) and NOTCH1 probe 17801-SP0548-L22640 c.7541-7542delCT=p.P2514Rfs*4). SD009 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probes. Inclusion of one reaction with 5 μl SD009 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 SD009 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: