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SALSA MLPA Probemix P185 Intersex

Sex determination

Region: SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 Xp21.2; NR0B1 Xp21.2; SRY Yp11.31; UTY Yq11.221

General Information: The SALSA MLPA Probemix P185 Intersex is a research use only (RUO) assay for the detection of deletions or duplications in the NR0B1 (DAX1), SOX9, SRY, WNT4 and NR5A1 genes.

The sex-determining region on chromosome Y (SRY) is the most important sex-determining region in humans. As a transcriptional activator, the SRY protein’s main function is to initiate male sex determination by regulating a genetic switch in male development.
In addition to SRY, the dosage-sensitive sex reversal (DSS) gene, NR0B1 (also known as DAX1) has also been found to influence sex-determination. Duplication of the NR0B1 gene region, resulting in two active copies can override the testis-determining signal, resulting in the development of ovaries and an XY female. In testicular Sertoli and Leydig cells, NR0B1 can be up-regulated by WNT4.
The SOX9 gene functions as a critical Sertoli cell differentiation factor. SOX9 deletions, as well as chromosomal rearrangements such as deletions, in an enhancer containing region far upstream of SOX9 can lead to campomelic dysplasia with or without XY sex reversal (Leipoldt et al, 2007; Katoh-Fukui et al, 2015).
The NR5A1 gene encodes the orphan nuclear receptor steroidogenic factor-1 which plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Haploinsufficiency of NR5A1 has been described in several 46, XY individuals with mild gonadal dysgenesis and impaired androgenization, but normal adrenal function, suggesting that dosage-sensitive or domain-specific effects of SF1 action are important in human testicular development and function.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1547

Probemix content: The SALSA MLPA Probemix P185-C3 Intersex contains 45 MLPA probes with amplification products between 121 and 495 nt. This includes probes for the following genes: NR0B1 (DAX1) and CXorf21 on Xp21.2, SOX9 on 17q24.3, SRY, UTY and ZFY on Yp11.31, WNT4 on 1p36.12 and NR5A1 on 9q33.3. Furthermore, flanking probes specific for the X and Y chromosomes are included. In addition, nine reference probes are included in this probemix, detecting several autosomal chromosomal locations.

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. 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P185-025R
SALSA MLPA Probemix P185 Intersex – 25 rxn
€ 243.00
P185-050R
SALSA MLPA Probemix P185 Intersex – 50 rxn
€ 486.00
P185-100R
SALSA MLPA Probemix P185 Intersex – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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