Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P049 SLC6A8 - ABCD1 probemix - 100 reactions

SALSA MLPA P049 SLC6A8 - ABCD1 probemix - 100 reactions

SALSA MLPA P049 SLC6A8 - ABCD1 probemix - 100 reactions

application: Creatine transporter, x-linked
region: SLC6A8, Xq28 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P049-100R

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

Detailní popis SALSA MLPA P049 SLC6A8 - ABCD1 probemix - 100 reactions

P049-100R SALSA MLPA P049 SLC6A8 - ABCD1 probemix – 100 rxn

Defects in the SLC6A8 gene encoding the X-linked creatine transporter are a  relatively frequent cause of mental retardation in males. Several other genes located at a short distance from SLC6A8 have also been implicated in neurological syndromes, including L1CAM gene (X-linked hydrocephalus, this probemix), MECP2 (RETT syndrome; P015 probemix), FLNA (lissencephaly; P061 probemix) and ABCD1 (X-linked adrenoleukodystrophy, this probemix).

Defects in the ABCD1 gene result in adrenoleukodystrophy due to defective peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, in the myelin of the central nervous system, and in the Leydig cells of the testes.

The SLC6A8 gene (14 exons) spans ~8.3 kb of genomic DNA and is located approximately 30 kb centromeric of the ABCD1 gene. Exon 1 of SLC6A8 is located within a CpG island; the gene is transcribed towards the telomeric end. The ABCD1 gene contains 10 exons and spans about 20 kb of genomic DNA. SLC6A8 and ABCD1 are located approximately 153 Mb from the p-telomere.

This P049-C1 SLC6A8 - ABCD1 probemix contains 9 probes for SLC6A8 and 9  for 10 ABCD1 exons. In addition, it contains 16 other probes in the Xq28 region, including probes for PNCK, BCAP31, IDH3G, L1CAM, IRAK1, MECP2, FLNA and GDI1. Finally, 9 probes detecting sequences elsewhere on the X  chromosome are included as reference probes.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognizable by a 35-50% reduction in relative peak area. 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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