General Information: The SALSA MLPA Probemix P118 WT1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
WT1 gene region and the
AMER1 gene, which are associated with Wilms tumours. The majority of Wilms tumour, or nephroblastoma, is caused by defects in the
WT1 gene on chromosome 11p13. The
WT1 gene product is required for normal formation of the genitourinary system and mesothelial tissues. Mutations in
WT1 gene have also been observed in patients with Denys-Drash syndrome, Frasier syndrome, Meacham syndrome, and type 4 nephrotic syndrome. Mutations in the
WT1 gene are observed in only 5% of the sporadic Wilms tumours. However, more than 90% of patients with Denys-Drash syndrome, which includes Wilms tumour, carry constitutional intragenic
WT1 mutations. Large chromosomal deletions including the
WT1 gene cause WAGR syndrome. We recommend the P219 PAX6 probemix to study the extent of chromosomal deletions in WAGR syndrome patients. Deletions at chromosome Xq11 have been implicated in sporadic Wilms tumours. The only gene in the interval is
AMER1, which is also called
WTX for 'Wilms tumour gene on the X chromosome'.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1294/
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 P118-C3 WT1 contains 34 MLPA probes with amplification products between 130 and 409 nucleotides (nt). This includes 17 probes for the
WT1 gene and surrounding region. Furthermore, it also contains three probes for the
AMER1 gene. In addition, 12 reference probes are included and detect 12 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (
www.mlpa.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.mlpa.com.