The SALSA MLPA
Probemix P216 Growth Hormone Deficiency mix-1 is a research use only (RUO)
assay for the detection of deletions or duplications in the GH1
, and HESX1
genes, which are associated with Growth Hormone Deficiency (GHD).
GHD is characterised by short stature, delayed growth velocity, and delayed skeletal maturation. Idiopathic growth hormone deficiency is the most common cause of GHD in children.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1347/
The SALSA MLPA Probemix P216-B2 Growth Hormone Deficiency mix-1 contains 49 MLPA probes with amplification products between 130 and 505 nucleotides (nt). This includes four probes for the GH1
gene, , five probes for the POU1F1
gene, three probes for the PROP1
gene, 12 probes for the GHRHR
gene, seven probes for the LHX3
gene, six probes for the LHX4
gene, and finally four probes for the HESX1
gene (Tables 2a-g). 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.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