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P360 Y-Chromosome

SALSA MLPA Probemix P360 Y-Chromosome detects copy number variations in the azoospermia factors (AZF) regions on the Y chromosome.

Specifications

Contents: 55 MLPA probes, including 43 probes spread over the relevant regions of the Y chromosome.

Tissue: human genomic DNA.

Application: research on spermatogenetic failure in infertile men through microdeletions of the Y chromosome.

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

This product is for basic research and intended for experienced users only! Interpretation of results may be complicated, and MRC Holland may only be able to provide basic support.

General information

The SALSA MLPA Probemix P360 Y-Chromosome is a research use only (RUO) assay for the detection of deletions or duplications in the azoospermia factors (AZF) regions on the Y chromosome, which are associated with spermatogenetic failure in infertile men.

Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after Klinefelter syndrome. These microdeletions are caused by intrachromosomal recombination events between large homologous repetitive sequence blocks (Foresta et al. 2001) and are clustered in three specific regions on the long arm of the Y chromosome, designated as azoospermia factors (AZF) loci: AZFa (~13.1-15.2 Mb from the p-telomere), AZFb (~18.5-22.8 Mb) and AZFc (~23.3-25.5 Mb) (Vogt et al. 1996). The most frequent type is the AZFc region deletion (~80%) followed by AZFa (0.5-4%), AZFb (1-5%) and AZFbc (1-3%) deletions (Krausz et al, 2014). Deletions which are detected as AZFabc are most likely related to abnormal karyotype such as 46,XX male or iso (Y) (Lange et al. 2009).

Inconsistent findings on the clinical effects of AZF-linked duplications (Giachini et al. 2008 and Lin et al. 2007), demonstrate the necessity of further research, for which at present, MLPA offers the most suitable technology.

This probemix contains probes for regions AZFa, AZFb and AZFc. The mix includes three probes which detect a sequence that is present three times across these regions and seven probes which detect a sequence that is present twice. See Table 1 in the product description for an overview of the probes and the number of sequences detected. Table 3 in the product description details the probes mapped to the AZF regions.

The best characterised AZFc deletion spans the whole AZFc region (about 3.5 Mb), however, partial AZFc deletions are also known. In a recent large study (Rozen et al. 2012) the frequency of four recurrent partial AZFc deletions was studied in five populations. It was found that partial (interstitial) AZFc deletions are more common among individuals with severe spermatogenic failure than in controls. However, it is important to note that certain partial AZFc deletions, such as the 1.6 Mb gr/gr deletion, are also present in high frequency in fertile men (Machev et al. 2004 and Hucklenbroich et al. 2005).

Finally, this probemix contains one probe detecting the SRY gene on the p arm of the Y chromosome and 12 reference probes that detect several different autosomal chromosomal locations.

Regulatory status

SALSA MLPA Probemix P360 Y-Chromosome is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P360-025R
SALSA MLPA Probemix P360 Y-Chromosome – 25 rxn
€ 286.00
P360-050R
SALSA MLPA Probemix P360 Y-Chromosome – 50 rxn
€ 560.00
P360-100R
SALSA MLPA Probemix P360 Y-Chromosome – 100 rxn
€ 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)
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 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.

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.

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