Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P032 FANCA mix 2 probemix - 25 reactions

SALSA MLPA P032 FANCA mix 2 probemix - 25 reactions

SALSA MLPA P032 FANCA mix 2 probemix - 25 reactions

application: Fanconi Anemia (FA)
region: FANCA 16q24.3
   Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P032-025R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P032 FANCA mix 2 probemix - 25 reactions

P032-025R SALSA MLPA P032 FANCA mix 2 probemix – 25 rxn

FANCONI ANEMIA (FA) is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Mutations in at least 7 different genes can result in FA. Defects of the FANCA gene on chromosome 16q24.3 are the most frequent cause. The genes involved in FA are all involved in DNA repair. Spontaneous chromosome breakage is a  feature of FA.

Known defects of the FANCA gene include point mutations, small deletions/insertions and deletions of one or more complete exons. Duplications of one or more exons have not yet been reported. A deletion of exons 12-31 is a founder mutation in the Afrikaner population of South Africa and could be traced back to a French. Several other exon deletions have been confirmed or were detected with the use of this SALSA MLPA kit in the Laboratory of DNA Diagnostics of the Free University in Amsterdam.

The FANCA gene (44 exons), spans about 79 kb of genomic DNA and is located on chromosome 16q24.3, less than 500 kb from the 16q telomere. The P031-B1 and P032-B1 probemixes contain one probe for each FANCA exon (with the exception of exon 11, which is only present in transcript variant 2). Probemix P031 contains 22 probes for different FANCA exons, as well as 10 reference probes detecting different autosomal chromosomal locations. Probemix P032 contains 21 probes for different FANCA exons and an additional flanking probe, as well as 11 reference probes detecting different autosomal chromosomal locations.

These SALSA® MLPA® probemixes are designed to detect deletions/duplications of one or more sequences of the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area 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 area, 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. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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