SALSA MLPA Probemix P334 Gonadal detects copy number variations in the DMRT1, CYP17A1, SRD5A2 and HSD17B3 genes.
Contents: 35 MLPA probes including 10 probes for DMRT1 (covering all exons), 7 probes for CYP17A1, 7 probes for SRD5A2 (covering all exons), and 3 probes for HSD17B3.
Tissue: human genomic DNA.
Application: research on gonadal development disorders.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P334 Gonadal is a research use only (RUO) assay for the detection of deletions or duplications in the DMRT1, CYP17A1, SRD5A2 and HSD17B3 genes, which are associated with gonadal development disorders.
The development and function of the mammalian gonad is influenced by several pathways. In the current SALSA MLPA P334 probemix, four genes (DMRT1, CYP17A1, SRD5A2 and HSD17B3) have been included which are all known to have an effect on gonadogenesis. The effects of mutations or loss of function of these genes range from pseudohermaphroditism, synthesis of androgens and oestrogens to gonadal dysgenesis.
The DMRT1 gene (5 exons), spans ~127 kb of genomic DNA and is located on chromosome 9p24.3, 0.8 Mb from the p-telomere. The CYP17A1 gene (8 exons), spans ~7 kb of genomic DNA and is located on chromosome 10q24.32, 105 Mb from p-telomere. The SRD5A2 gene (5 exons), spans ~56 kb of genomic DNA and is located on chromosome 2p23.1, 32 Mb from p-telomere. The HSD17B3 gene (11 exons), spans ~67 kb of genomic DNA and is located on chromosome 9q22.32, 98 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1547/.
SALSA MLPA Probemix P334 Gonadal is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
See this support article for commercially available positive samples that can be used with this product.