General information
The SALSA MLPA Probemix P350 CLCN1-KCNJ2 is a
research use only (RUO) assay for the detection of deletions or duplications in the
CLCN1 and
KCNJ2 genes, which are associated with Becker disease, Thomsen disease, and Andersen-Tawil syndrome (ATS).
Myotonia congenita is characterised by muscle stiffness and delayed relaxation after muscle contraction (myotonia). Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosomal dominant manner (Thomsen disease). Thomsen disease is less common and less severe than Becker disease. Defects in the
CLCN1 gene on chromosome 7 are the main cause of myotonia congenita. The protein encoded by this gene is a chloride voltage-gated channel, important in controlling the influx of chloride ions into skeletal muscle cells.
ATS is an autosomal dominant multisystem channelopathy characterised by periodic paralysis, ventricular arrhythmias and dysmorphic facial or skeletal features. Defects in the
KCNJ2 gene on chromosome 17 are the main cause of ATS. The protein encoded by this gene is inward rectifier potassium channel 2 (Kir2.1), important in controlling the (in)flux of potassium ions into skeletal and cardiac muscle cells.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1355/ and
https://www.ncbi.nlm.nih.gov/books/NBK1264/.
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 P350-C1 CLCN1-KCNJ2 contains 39 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 24 probes for the
CLCN1 gene, one probe for each exon and two probes for exon 17, and two flanking probes, one upstream and one downstream of the
CLCN1 gene. Furthermore, five probes for the
KCNJ2 gene are included, two probes for exon 1 and three probes for exon 2.
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.