This SALSA® MLPA® probemix is for basic research and intended for experienced MLPA users only! This probemix enables you to quantify genes in complex regions. Interpretation of results can be complicated. MRC-Holland cannot provide assistance with interpretation of results obtained with this product, and recommends thoroughly screening any available literature.
Receptors for the Fc portion of IgG play an essential role in the protection of the organism against foreign antigens by removing antigen-antibody complexes from the circulation. Receptors are present on monocytes, macrophages, neutrophils, natural killer (NK) cells and T and B lymphocytes. The receptors participate in diverse functions, such as phagocytosis of immune complexes and modulation of antibody production by B cells. Genes for several low-affinity FcG receptors are clustered on chromosome 1q23-24. Within a 180 kb chromosomal area are genes for the FCGR2A, FCGR2B, FCGR2C, FCGR3A and FCGR3B proteins. In addition, this region contains genes for the HSPA6 and HSPA7 heat shock proteins.
Due to high similarity between these FCGR genes and due to their close proximity, gene rearrangements are frequent in this chromosomal region. Various functionally relevant polymorphisms (SNPs) in these genes, as well as copy number variation of the
FCGR2C,
FCGR3A and
FCGR3B genes, have been reported. The MLPA probemixes P110/P111 FCGR cover the mentioned FcG receptor genes and are intended to detect both copy number changes of these genes as well as to detect some frequent polymorphisms and point mutations such as
FCGR2A R131/H131;
FCGR2B 232I/232T;
FCGR2B/C -386 (Alias -343) G/C;
FCGR3A 158V/158F. Probes specific for
FCGR3B NA1, NA2 and SH are also included.
Interpretation of results obtained with these P110/P111 FGCR probemixes requires an in-depth knowledge of the function of these genes. For instance, although the FCGR2A and FCGR2B proteins are highly similar, the FCGR2B is an “inhibitory” receptor, while FCGR2A is an activating receptor. Disruption of inhibitory FcG receptors such as FCGR2B may result in autoimmune disorders.
These P110-B2/P111-B2 probemixes are provided with a vial of SD038 reference DNA. More information on SD038 can be found on page 2 of the product description.
These SALSA
® MLPA
® probemixes are designed to detect abnormal copy numbers of the
FCGR2A,
2B,
2C,
3A and
3B genes and to detect the presence of the aforementioned mentioned polymorphisms and point 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. Not all deletions and duplications detected by MLPA will be pathogenic. Not all defects in these genes will be detected by this MLPA test. Users should always verify the latest scientific literature when interpreting their findings.
sample DNA
Sample DNA developed for this product: