General information
The SALSA MLPA
Probemix P132 Kallmann-1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
ANOS1 (
KAL1) gene, which is associated with Kallmann syndrome.
Kallmann syndrome is a distinct form of Isolated Gonadotropin-Releasing Hormone (GnRH) deficiency characterised by anosmia or hyposmia.
ANOS1 encodes the extracellular matrix protein, anosmin-1, that plays a key role in the migration of GnRH neurons and olfactory nerves to the hypothalamus.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1334/.
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 P132-A4 Kallmann-1 contains 29 MLPA probes with amplification products between 136 and 400 nucleotides (nt). This includes 16 probes for the
ANOS1 gene and three flanking probes that detect locations on both sides of the
ANOS1 gene
. In addition, ten reference probes are included that detect locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains ten quality control fragments generating amplification products between 64 and 118 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and two 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.