Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P185 Intersex probemix - 100 reactions

SALSA MLPA P185 Intersex probemix - 100 reactions

application: Alagille Syndrome (AGS)
region: JAG1 20p12.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P185-100R

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

Detailní popis SALSA MLPA P185 Intersex probemix - 100 reactions

P185-100R SALSA MLPA P185 Intersex probemix – 100 rxn

The sex-determining region on chromosome Y (SRY) is the most important sex-determining region in humans. As a transcriptional activator, the SRY protein’s main function is to initiate male sex determination by regulating a genetic switch in male development. In addition to SRY, the dosage-sensitive sex reversal (DSS) gene, DAX1 (also known as NR0B1) has also been found to influence sex-determination. It is believed that two active copies of DAX1 can override the testis-determining signal, resulting in the development of ovaries and an XY female. In testicular Sertoli and Leydig cells, DAX1 can be upregulated by WNT4.
The SOX9 gene, downstream of SRY, functions as a critical Sertoli cell differentiation factor. Leipoldt, M. et al. described Cis acting elements upstream of SOX9 where chromosomal aberrations can lead to campomelic dysplasia with or without XY sex reversal (2007, Clin Genet.).
NR5A1 encodes the orphan nuclear receptor steroidogenic factor-1, a  nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploinsufficiency of NR5A1 has been described in several 46, XY individuals with mild gonadal dysgenesis and impaired androgenization, but normal adrenal function, suggesting that dosage-sensitive or domain-specific effects of SF1 action are important in human testicular development and function.

The P185-B2 probemix contains probes for the following genes: NR0B1 (DAX1) on Xp21.2, SOX9 on 17q24.3, SRY on Yp11.3, WNT4 on 1p36.12 and NR5A1 on 9q33. Furthermore, probes for the cytochrome P 450 enzyme CYP21A2 (involved in congenital adrenal hyperplasia) and its pseudogene CYP21A1P are included, as well as probes specific for the X and Y-chromosomes. In addition, 6 reference probes are included in this probemix, detecting several 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 autosomal probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. 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 recognisable 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 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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