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P054 FOXL2-TWIST1

SALSA MLPA Probemix P054 FOXL2-TWIST1 detects copy number variations in the TWIST1, FOXL2, FOXC1, FOXC2, ATR, PITX2, PISRT1 and GPR143 (former OA1) genes.

Specifications

Contents: 45 MLPA probes, including probes for the TWIST1 region, GPR143 (OA1), PITX2, ATR, the PISRT1 region, FOXL2, FOXC1, and FOXC2.

Tissue: human genomic DNA.

Application: research on ophthalmogenetic anomalies.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

General information

The SALSA MLPA Probemix P054 FOXL2-TWIST1 is a research use only (RUO) assay for the detection of deletions or duplications in the TWIST1, FOXL2, FOXC1, FOXC2, ATR, PITX2, PISRT1 and GPR143 (former OA1) genes, which are associated with ophthalmogenetic anomalies.

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 chromosome 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; OMIM 101400). It has been estimated that 23% 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. The P054-C3 FOXL2-TWIST1 probemix contains two probes for the TWISTNB (POLR1F) gene, located at a distance of ~580 kb from TWIST1 in a relatively gene-poor region. There is no clear evidence yet, however, that a deletion of TWISTNB is the cause of the developmental delay. More information about SCS is available at https://www.ncbi.nlm.nih.gov/books/NBK1189/.

The FOXL2 gene encodes a forkhead transcription factor. Mutations in FOXL2 can cause blepharophimosis syndrome (BPES; OMIM 110100), an autosomal dominant syndrome characterised by eyelid malformation, sometimes associated with premature ovarian insufficiency (BPES type I), and sometimes not (BPES type II). The FOXL2 gene is located on chromosome 3q22.3 and consists of a single 2.7 kb exon. Several FOXL2 deletions have been identified. The deletions can span several Mb of chromosomal DNA and may extend to the ATR gene located 3.6 Mb telomeric of FOXL2 (D'haene et al. 2010). 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 with FOXL2. More information about BPES is available at https://www.ncbi.nlm.nih.gov/books/NBK1441/.

Other genes detected by this probemix are PITX2 (4q25, Axenfeld-Rieger syndrome; OMIM 180500), GPR143 (Xp22.2; ocular albinism type I) and the forkhead transcription factors FOXC1 (6p25.3) and FOXC2 (16q24.1).

Regulatory status

SALSA MLPA Probemix P054 FOXL2-TWIST1 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P054-025R
SALSA MLPA Probemix P054 FOXL2-TWIST1 – 25 rxn
MLPA
€ 286.00
P054-050R
SALSA MLPA Probemix P054 FOXL2-TWIST1 – 50 rxn
MLPA
€ 560.00
P054-100R
SALSA MLPA Probemix P054 FOXL2-TWIST1 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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