SALSA MLPA P325 OCA2 probemix - 50 reactions

oculocutaneous albinism.

region: OCA2 15q13 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P325-050R

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Detailní popis SALSA MLPA P325 OCA2 probemix - 50 reactions

P325-025R SALSA MLPA P325 OCA2 probemix – 50 rxn

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterised by hypopigmentation in the skin, hair and eyes due to disorders in the melanin biosynthesis. There are different types of OCA in which OCA type 2 (OCA2) is the most common. Defects in the oculocutaneous albinism gene (OCA2 formerly known as the P-gene) and the tyrosinase gene (TYR) are considered to be causes of OCA2. Durham-Pierre et al. (1994, Nat Genet, 7:176-9.) has reported for the first time a 2.7 kb deletion present in OCA2 patients.

The protein encoded by the OCA2 gene is the P protein, whereas the protein encoded by the TYR gene is tyrosinase. The tryrosinase protein is important during the initial steps of melanin production, while the P protein (OCA2) is a transporter protein. The OCA2 gene (24 exons) spans ~344 kb of genomic DNA and is located on 15q11, 28 Mb from the p-telomere. The TYR gene (5 exons) spans ~118 kb of genomic DNA and is located on 11q14, 89 Mb from the p-telomere.

The P325-A1 probemix contains 26 probes for the OCA2 gene which includes probes for all the exons of the gene, with the exception of exon 8. Furthermore, two probes are located nearby the upper and lower boarder of the 2.7-kb deletion area and one probe is located within the deleted region. For the TYR gene one probe for each exon is included within the probemix. The database of genomic variants mentions several copy number changes in this genomic region that have been found in healthy individuals (see In addition, 11 reference probes are included in this probemix, detecting 11 different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in 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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