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SALSA P001 Trisomy MLPA KIT
Aberrant copy numbers of human chromosomes 13, 18, 21, X and Y are not always lethal. Detection of aberrant chromosomal copy number can be performed by standard chromosome analysis or by fluorescent in situ hybridisation. However, these techniques are time consuming and cannot be performed on purified DNA samples. Other techniques used for the detection of trisomies are based on VNTRs and rely on the presence of three different alleles.
The probe mix included in this kit contains four probes each for human chromosome X and Y target sequences, as well as 8 probes each that are specific for chromosome 13, 18 and 21 sequences. In addition 8 probes specific for other chromosomes are included.
This MLPA kit is designed to detect a difference in copy of a specific chromosome. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations / polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. The exact ligation sites of the MLPA probes are indicated in the description of the MLPA test. We have tried to avoid all polymorphisms apparent from the Genbank databases. Apparent deletions of a single probe will always require confirmation by other methods, this can be due to a pointmutation.
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Full mix description (pdf)
Last Lot NR.: Lot 0408
IMPORTANT NOTICE:
MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes.
The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
Gerdes T et al. (2005). Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
Slater HR et al. (2003). Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)
ASHG -- Trisomy Poster.
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