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SALSA MLPA KIT P054 FOXL2 / TWIST1
This probemix includes probes for the TWIST1, FOXL2, FOXC1, FOXC2, ATR, PITX2 and GPR143 (former OA1) genes. Mutations in most of these genes result mainly in ophthalmogenetic anomalies. Please note that the GPR143 gene is on the X-chromosome and that we may replace the GPR143 probes in a separate probemix in the future. The protein coded by the TWIST1 gene may affect the transcription of fibroblast growth factor receptors (FGFRs), a gene family implicated in craniosynostosis. TWIST proteins may also regulate cytokine signalling. The TWIST gene is located on 7p21, contains two exons and spans only 1.9 Kb. Mutations in the TWIST 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 TWIST gene. The majority of patients with a TWIST 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 TWIST in this gene poor region. There is no proof however that deletion of TWISTNB is the cause of the developmental delay. The FOXL2 gene product is a forkhead transcription factor. The blepharophimosis syndrome (BPES; MIM 110100), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), can be caused by mutations in FOXL2. The FOXL2 gene is located on 3q23 and consists of a single 2.7 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. Other genes in the probemix are ATR (3q22; involved in cell cycle progression), PITX2 (4q25-q26; Rieger syndrome MIM 180500), GPR143 (former OA1; Xp22.3; ocular albinism type I) and forhead transcription factors FOXC1 (6p25) and FOXC2 (16q24.3) This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the aforementioned genes. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
Last change in probe mix content: Lot 0905 (September 2005) Current Lot Number.: Lot 0905
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References poster: P054 FOXL2; ESHG Meeting, Munchen, juni 2004.
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