The SALSA MLPA Probemix P067 PTCH1 is a research use only (RUO) assay for the detection of deletions or duplications in the PTCH1 gene. The PTCH1 gene (25 exons) spans ~66 kb of genomic DNA and is located on chromosome 9q22.32, ~95 Mb from the p-telomere. Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterised by developmental abnormalities and a predisposition to cancers. Defects in the PTCH1 tumour suppressor gene are the cause of Gorlin syndrome. Furthermore, the PTCH1 gene is the critical gene for 9q22.3 microdeletion, a disorder characterised by delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK61984/
The SALSA MLPA Probemix P067 PTCH1 contains 33 MLPA probes with amplification products between 142 and 454 nt. This P067 probemix contains probes for 23 out of 25 exons of the PTCH1 gene, no probes are included for exons 1 and 9. In addition, ten reference probes are included in this probemix, detecting ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is 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, one chromosome X and one chromosome Y-specific fragment (see table in the product description). 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.