General information
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/.
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 P334-A5 Gonadal contains 35 MLPA probes with amplification products between 165 and 472 nucleotides (nt). This includes ten probes for the
DMRT1 gene (two probes for each exon), seven probes for the
CYP17A1 gene (one probe for each exon except exon 8), seven probes for the
SRD5A2 gene (one probe for each exon and two probes for exons 1 and 4) and three probes for the
HSD17B3 gene (for exons 1, 3 and 11). 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.mrcholland.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.mrcholland.com.