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P185 Intersex

SALSA MLPA Probemix P185 Intersex detects copy number variations in the NR0B1 (DAX1), SOX9, SRY, WNT4 and NR5A1 genes.

Specifications

Contents: 45 MLPA probes, including probes for NR0B1 (DAX1) and CXorf21 (TASL) on Xp21.2, SOX9 on 17q24.3, SRY, UTY and ZFY on Yp11.21-31, WNT4 on 1p36.12 and NR5A1 on 9q33.3.

Tissue: human genomic DNA.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

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 (SF1) 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/.

Regulatory status

SALSA MLPA Probemix P185 Intersex is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P185-025R
SALSA MLPA Probemix P185 Intersex – 25 rxn
MLPA
€ 286.00
P185-050R
SALSA MLPA Probemix P185 Intersex – 50 rxn
MLPA
€ 560.00
P185-100R
SALSA MLPA Probemix P185 Intersex – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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