General information
The SALSA MLPA
Probemix P212 DBA is a research use only (RUO) assay for the detection of deletions or duplications in the
RPL11,
RPL35A,
RPS17,
RPS19,
RPS26, and
RPL5 genes, which are associated with Diamond-Blackfan Anemia (DBA).
DBA is an erythroid aplasia characterised by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. It usually becomes apparent during the first year of life and its symptoms include fatigue, weakness, and an abnormally pale appearance. Almost half of the patients show physical malformations involving head, thumb, heart, and urogenital system. Most cases are apparently sporadic, but in 10-25% of the cases the disease can be inherited with an autosomal dominant pattern. In the majority of these cases, DBA is caused by ribosomal protein haploinsufficiency due to mutations or deletions.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK7047/.
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 P212-C3 DBA contains 42 MLPA probes with amplification products between 130 and 447 nucleotides (nt). This includes one probe for each exon of the the
RPL11,
RPL35A,
RPS17,
RPS19, and
RPS26 genes and seven probes for the
RPL5 gene. In addition, nine 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.