SALSA MLPA P283 TPMT probemix - 50 reactions

application: Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase)
region: TPMT 6p22, DPYD 1p22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P283-050R

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

Detailní popis SALSA MLPA P283 TPMT probemix - 50 reactions

P283-025R SALSA MLPA P283 TPMT probemix – 50 rxn

description
Defects in thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine: thiopurine S-methyltransferase) are the cause of thiopurine S-methyltransferase deficiency (TPMT deficiency). TPMT is an enzyme involved in the normal metabolic inactivation of thiopurine drugs. These drugs are generally used as immunosuppressant or cytotoxic drugs and are prescribed for a variety of clinical conditions including leukaemia, autoimmune disease and organ transplantation. Patients with intermediate or no TPMT activity are at risk of toxicity after receiving standard doses of thiopurine drugs and it is shown that inter-individual differences in response to these drugs are largely determined by genetic variation at the TPMT locus.
There are several mutations in the TPMT gene which result in reduced enzyme activity. In Caucasians, the A154T mutation (also referred to as TPMT*3B allele), the Y240C mutation (TPMT*3C allele), or both (TPMT*3A allele), as well as the A80P (TPMT*2 allele), are present in the majority of individuals with low TPMT activity.

The TPMT gene (9 exons), spans ~27 kb of genomic DNA and is located on 6p22.3, ~18 Mb from the p-telomere. The P283-B1 TPMT probemix contains one probe for each of the 9 exons of TPMT gene, except for exon 6 (two probes for exons 2 are included). In addition, this probemix contains 2 probes detecting the A80P and A154T mutation, and a probe detecting the wildtype sequence for the Y240C mutation. Furthermore, 12 reference probes are included, detecting different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes. 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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