Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P355 Microcephaly probemix - 100 reactions

SALSA MLPA P355 Microcephaly probemix - 100 reactions

SALSA MLPA P355 Microcephaly probemix - 100 reactions

application: Primary Microcephaly

region: MCPH1, ASPM, CDK5RAP2, CENPJ, STIL Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P355-100R

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

Detailní popis SALSA MLPA P355 Microcephaly probemix - 100 reactions

P355-025R SALSA MLPA P355 Primary Microcephaly probemix – 100 rxn

description
Primary microcephaly is characterized by smaller than normal brain size and variable degree of mental retardation (Mahmood et al. 2011). It is a genetically heterogeneous disorder, inherited in an autosomal recessive fashion. The incidence is ~1 in 10 000 in consanguineous populations, less in non-consanguineous populations. Defects in the MCPH1, MCPH2 (WDR62 gene), MCPH3 (CDK5RAP2 gene), MCPH5 (ASPM gene), MCPH6 (CENPJ gene) and MCPH7 (STIL gene) loci can be the cause of primary microcephaly. The proteins encoded by these genes all associate with the centrosome, for at least part of the cell cycle (Thornton et al. 2009).

The MCPH1 (microcephalin gene) (14 exons), spans ~242 kb of genomic DNA and is located on chromosome 8p23, 6.3 Mb from the p-telomere. The P355-A1 probemix contains nine probes for several exons of the gene.
The CDK5RAP2 (cyclin-dependent kinase 5 regulatory associated protein 2) gene (38 exons), spans ~191 kb of genomic DNA and is located on chromosome 9q33.2, 123.2 Mb from the p-telomere. The P355-A1 probemix contains probes for six exons of the gene.
The ASPM (abnormal spindle-like microcephaly associated gene) (28 exons), spans ~62.5 kb of genomic DNA and is located on chromosome 1q31.3, 197.1 Mb from the p-telomere. The P355-A1 probemix contains probes for 14 exons of the gene.

Both the CENPJ (centromere protein J gene) and the STIL (SCL Interrupting Locus) gene, contain 17 exons. CENPJ spans ~41 kb of genomic DNA on 13q12, 25.5 Mb from the p-telomere and STIL spans ~63 kb of genomic DNA on 1p33, 47.7 Mb from the p-telomere. For both genes, four probes are included in this probemix.
The P355-A1 probemix furthermore contains one probe for the first exon of WDR62 (WD repeat domain 62) gene (Wollnik, B. 2010). In total, this gene comprises 32 exons and spans ~50.2 kb of genomic DNA on 19q13.12, 36.5 Mb from the p-telomere. In addition, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® kit 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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