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SALSA MLPA Probemix P475 FOXP1 - FOXP2

Mental retardation; FOXP2-related speech and language disorders

Region: FOXP1 3p14.1; FOXP2 7q31.1

General information
The SALSA MLPA Probemix P475 FOXP1-FOXP2 is a research use only (RUO) assay for the detection of deletions or duplications in the FOXP1 and FOXP2 genes, which are associated with intellectual disability and speech and language disorder.

Forkhead box (FOX) proteins are a family of transcription factors defined by a forkhead DNA-binding domain, which are involved in a range of functions. Of the FOXP protein subfamily, which includes FOXP1-4, FOXP1 and FOXP2 have been indicated in cognitive disorders (Bacon & Rappold 2012). Mutations in FOXP1 are associated with intellectual disability and may also cause language impairment as well as autistic features (OMIM 613670). FOXP2 mutations are known to cause a severe speech and language disorder (OMIM 602081); autistic features have been reported in some cases.

The FOXP1 gene (21 exons) spans ~629 kb of genomic DNA and is located on 3p14.1, 71 Mb from the p-telomere. The FOXP2 gene (18 exons) spans ~276 kb of genomic DNA and is located on 7q31.1, 114 Mb from the p-telomere.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P475-A1 FOXP1-FOXP2 contains 54 MLPA probes with amplification products between 124 and 509 nucleotides (nt). This includes 26 probes for the FOXP1 gene and 20 probes for the FOXP2 gene, one probe for each exon of these genes and two probes for FOXP1 exons 3-7 and FOXP2 exons 3 and 4. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P475-025R
SALSA MLPA Probemix P475 FOXP1 - FOXP2 – 25 rxn
€ 281.00
P475-050R
SALSA MLPA Probemix P475 FOXP1 - FOXP2 – 50 rxn
€ 550.00
P475-100R
SALSA MLPA Probemix P475 FOXP1 - FOXP2 – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

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