General information
The SALSA MLPA
Probemix P387 NPHP1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
NPHP1 gene, which is associated with Senior-Loken syndrome type 1.
Familial juvenile nephronophthisis is characterized by a kidney disorder involving both tubules and glomeruli. Defects in the
NPHP1 gene on chromosome 2q13 is one of the causes of juvenile nephronophthisis. This protein appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures.
Defects in this gene are also associated with Senior-Loken syndrome type 1, referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease. Furthermore, defects in the
NPHP1 gene are associated with Joubert syndrome type 4, characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.
The
NPHP1 gene (20 exons), spans ~82.7 kb of genomic DNA and is located on chromosome 2q13, 110.1 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK368475/.
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 P387-A4 NPHP1 contains 30 MLPA probes with amplification products between 178 and 400 nucleotides (nt). This P387-A4 includes one probe for each exon of the
NPHP1 gene. In addition, 10 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.