Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P054 FOXL2 TWIST1 probemix - 50 reactions

SALSA MLPA P054 FOXL2 TWIST1 probemix - 50 reactions

application: Ophthalmogenetic anomalies
region: FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P054-050R

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

Detailní popis SALSA MLPA P054 FOXL2 TWIST1 probemix - 50 reactions

P054-050R SALSA MLPA P054 FOXL2-TWIST1 probemix – 50 rxn

This probemix includes probes for the TWIST1, FOXL2, FOXC1, FOXC2, ATR, PITX2, PISRT1 and GPR143 (former OA1) genes. Mutations in these genes result mainly in ophthalmogenetic anomalies. Please note that the GPR143 gene is located on the X chromosome.

The protein encoded by the TWIST1 gene may affect the transcription of fibroblast growth factor receptors (FGFRs), a gene family implicated in craniosynostosis. It is suggested that TWIST1 proteins also regulate cytokine signalling. The TWIST1 gene is located on 7p21.1, contains two exons and spans only ~2.2 kb. Mutations in the TWIST1 gene are the major cause of Saethre-Chotzen syndrome (SCS; MIM 101400). It has been estimated that 11% of SCS patients have a deletion of one copy of the TWIST1 gene. The majority of patients with a TWIST1 deletion are also developmentally delayed, presumably due to haploinsufficiency of nearby genes. We included two probes for the TWISTNB gene, located at a  distance of 590 kb from TWIST1 in this gene-poor region. There is no clear evidence yet however that a deletion of TWISTNB is the cause of the developmental delay.

The FOXL2 gene product is a forkhead transcription factor. Mutations in FOXL2 can cause blepharophimosis syndrome (BPES; MIM 110100), an autosomal dominant syndrome characterised by eyelid malformation, sometimes associated with premature ovarian failure (POF type I), sometimes not (POF type II). The FOXL2 gene is located on chromosome 3q22.3 and consists of a single 2.9 kb exon. Several FOXL2 deletions have been identified. At least one of these deletions spans several Mb of chromosomal DNA and may extend to the ATR gene located 3.6 Mb telomeric of FOXL2. Three probes for ATR are included in this probemix. The non-protein-coding PISRT1 gene is located on 3q23 and consists of a  single 0.5 kb exon. PISRT1 is located 0.3 Mb telomeric from FOXL2 and shares a common transcriptional regulatory region FOXL2.

Other genes in this probemix are PITX2 (4q25, Rieger syndrome; MIM 180500), GPR143 (former OA1; Xp22.2; ocular albinism type I) and forkhead transcription factors FOXC1 (6p25.3) and FOXC2 (16q24.1). In addition eight reference probes have been 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 recognition sequences on autosomal chromosomes should give a 35-50% reduced relative peak height of the amplification product of that probe. Deletions of a  probe’s recognition sequence on the X-chromosome (GPR143) 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 height. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, 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. 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons.

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