SALSA MLPA P140 HBA probemix - 100 reactions

application: Thalassemias, Alpha
region: HBA 16p Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P140-100R

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Detailní popis SALSA MLPA P140 HBA probemix - 100 reactions

P140-100R SALSA MLPA P140 HBA probemix – 100 rxn

The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, while they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Alpha chains combined with delta chains constitute HbA2, which together with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some non-deletion alpha thalassemias have also been reported.

HS-40 is the major regulatory element of the human alpha-globin locus and is located 40 kb upstream the zeta-globin gene. Deletion of only the HS40 region has also been described.

This SALSA® MLPA® probemix is designed to detect copy number changes of 24 different sequences in the HBA region. In addition, the probemix contains one probe that detects the presence of the Constant Spring mutation.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in or near the HBA1 and HBA2 genes. Heterozygous deletions of recognition sequences should give a  35-50% reduced relative peak area of the amplification product of that probe. The 142 & 166 nt probes detect the exon 3 sequence which is present in both HBA1 and HBA2. Hence, they will show a decrease in signal of only 20-25% in samples of individuals with three instead of the usual four HBA copies. For more information regarding interpretation of probe ratios, please see Table 3. 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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