General information: The SALSA MLPA
Probemix P184 JAG1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
JAG1 gene, which is associated with Alagille syndrome (ALGS).
ALGS causes a wide spectrum of clinical manifestations. Features are characteristic faces, with deep-set eyes and prominent forehead and chin. Cardiac defects are seen in the majority of ALGS patients. ALGS is also one of the major forms of chronic liver disease in childhood. Other abnormalities are seen in the eyes, vertebrae and kidneys. Defects in the
JAG1 gene on chromosome 20 are the main cause (94%) of ALGS. The disorder is inherited in an autosomal dominant manner.
The
JAG1 gene (26 exons) spans ~36 kb of genomic DNA and is located on 20p12.2, 11 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1273/.
Probemix content: The SALSA MLPA Probemix P184-C4 JAG1 contains 39 MLPA probes with amplification products between 136 and 454 nucleotides (nt). This includes 28 probes for the
JAG1 gene, one probe for each exon of the gene and two probes for exon 1 and 26. In addition, 11 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.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.