SALSA MLPA P147 1p36 probemix - 25 reactions

SALSA MLPA P147 1p36 probemix - 25 reactions

application: 1p36 deletion syndrome
region: 1p36 Detailní informace

Cena s DPH € 294.03
Cena bez DPH € 243.00
 25 react
Dostupnost Skladem
Kód produktu P147-025R

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Detailní popis SALSA MLPA P147 1p36 probemix - 25 reactions

P147-025R SALSA MLPA P147 1p36 probemix – 25 rxn

This P147 probemix can be used to confirm and further characterise abnormalities detected by SALSA MLPA probemix P036 and/or SALSA MLPA probemix P069 / P070 used for broad human subtelomere screening.

1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosomes is lost. The breakpoints for this cytogenetic syndrome are variable and ranges from bands 1p36.13 to 1p36.33. This chromosome disorder was first described in the late 1990's and early 2000's. Chromosome 1p36 deletion syndrome is also called "monosomy 1p36". It is considered to be one of the most common chromosome terminal deletion syndromes and is a frequent cause of mental retardation. The incidence has been estimated to be 1 in 5,000 to 1 in 10,000 live born children. To date, more affected females than males have been reported.

SALSA® MLPA® probemixes P036 and P069 / P070 each contain one MLPA probe for each subtelomeric region. Most of these probes detect a well-characterized gene close to the telomere. The probes in P036 and P069 / P070 are different, allowing results obtained with one probemix to be confirmed by the other. The majority of probes in P069 and P070 are identical. For the p telomeres of the acrocentric chromosomes 13, 14, 15, 21 and 22, it is not possible to design reliable probes. For these chromosomes, the P069 probemix only contains a probe for the q telomeric region. The P036 and P070 probemixes contain a  second probe for these q arms, which target a DNA sequence close to the centromere. We recommend using SALSA MLPA probemix P036 Human Telomere-3 and SALSA MLPA probemix P070 Human Telomere-5 for primary screening of the subtelomeres. Results obtained with these probemixes can be confirmed and further characterized with one of the specific follow up probemix for telomere analysis, such as this P147-B2 1p36 deletions probemix.

This P147-B2 probemix contains 37 probes in the 1p36 region. In addition, 10 reference probes are included in this probemix, detecting different autosomal chromosomal locations.
Please note that deletions or duplications of part of 1p36 can be present in healthy persons! As an example, a duplication of approximately 1 Mb was detected in a DNA sample from a healthy individual with the P036 and P070 telomere SALSA MLPA probemixes. This duplication was further characterized with this P147 probemix. The duplication included all probes from TNFRSF4 up to GABRD (Kathleen Claes, Ghent, personal communication).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the above mentioned chromosomal regions in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a  reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.

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