General information: The SALSA MLPA Probemix P359 PLOD1 is a research use only (RUO) assay for the detection of deletions or duplications in the PLOD1 gene, which is associated with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. Currently, there are six major types of EDS.
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (also known as EDS type VI; OMIM # 225400) is an autosomal recessive generalized connective tissue disorder, characterised by progressive curvature of the spine (kyphoscoliosis), fragile eyes, severe muscle weakness (hypotonia), and generalized joint hypermobility in association with skin fragility. It is caused by mutations in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, which encodes lysyl hydroxylase 1. This enzyme plays an important role in the formation and stabilization of collagens. The expected number of PLOD1 deletions/duplications which can be detected with this MLPA probemix is approximately 33% (Giunta et al. 2005, Pousi et al. 1994, Pousi et al. 1998, Yeowell et al. 2000). The PLOD1 gene contains 19 exons, spans ~41 kb of genomic DNA, and is located on 1p36.22.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1462/.

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 P359-A3 PLOD1 contains 27 MLPA probes with amplification products between 135 and 409 nucleotides (nt). This includes 19 probes for the PLOD1 gene, two probes for exon 1, and one probe for each other exon with the exception of exon 9. 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.