The SALSA MLPA
Probemix P232 FGD1 is a research use only (RUO)
assay for the detection of deletions or duplications in the FGD1
gene, which is associated with Aarskog-Scott syndrome.
Aarskog-Scott syndrome, also known as faciogenital dysplasia (FGDY), is an X-linked disorder characterised by short stature and facial, skeletal and genital abnormalities. To date, mutations in the FGD1
gene are the only known genetic cause of Aarskog-Scott syndrome. However, only ~20% of people with this syndrome have identifiable mutations in FGD1
gene (18 exons), spans ~51 kb of genomic DNA and is located on chromosome Xp11.22, ~55 Mb from the p-telomere.
The SALSA MLPA Probemix P232-C2 FGD1 contains 29 MLPA probes with amplification products between 142 and 463 nucleotides (nt). This includes 19 probes for the FGD1
gene, one probe for each of the 18 exons and two probes for exon 1, and one flanking probe for the MAGEH1
gene. In addition, nine 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.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