General Information: The SALSA MLPA
Probemix P177-B3 CASR is a
research use only (RUO) assay for the detection of deletions or duplications in the
CASR gene.
Familial Hypocalciuric Hypercalcemia (FHH) is characterized by high levels of calcium in the blood and low levels of calcium in the urine. FHH is primarily caused by inactivating mutations in the
CASR gene, while activating mutations cause Automosomal Dominant Hypocalcemia that is characterized by low levels of calcium in the blood. The protein encoded by the
CASR gene is a G protein-coupled receptor expressed in cells of the parathyroid gland and the kidney. This protein senses small changes in circulating calcium concentrations to help maintaining a stable calcium concentration.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1116
Probemix content The SALSA MLPA Probemix P177-B3 CASR contains 23 MLPA probes with amplification products between 130 and 301 nt. This P177-B3 contains one probe for each exon of the
CASR gene. Exons 2, 3, 4, 5, 6 and 7 are covered by two probes. Additionally, this probemix includes a probe for intron 1. Finally, nine reference probes are included, that detect several different 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, 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.