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SALSA MLPA KIT P093-B1 HHT / PPH1
[mailto:info@mrc-holland.com]
Lot 1107: As compared to lots 1106, 0506, four probes have been replaced and two extra ENG probes have been added. In addition, the 88 and 96 nt DNA Denaturation (DD-) fragments have been added. Hereditary Hemorrhagic Telangiectasia (HHT; also called Osler-Weber-Rendu syndrome) is a genetic disorder of the blood vessels which affects about one in 8000 people. HHT is an autosomal dominant disease that can be caused by defects in the Endoglin (ENG) and ACVRL1 (ALK1) genes. The ENG gene has 14 exons and spans 39 Kb gene on chromosome 9q34.1. This P093 probemix contains MLPA probes for 13 different ENG exons. No probe is present for exon 12. The distance of exon 12 to the recognition sequences of the exon 11 probe is small. The ACVRL1 (ALK1) gene has 10 exons and spans 13 Kb on chromosome 12q13.13. This P093 probemix contains MLPA probes for each exon. Most defects in the ENG and ACVRL1 genes can be detected by sequence analysis. Some data suggest that copy number measurement of these genes could increase the detection rate by 10% (Cymerman U. et al. (2003) Hum Mutat 21:482-92). More info is available on http://www.geneclinics.org/profiles/hht/details.html. Mutations in the BMPR2 gene can cause primary pulmonary hypertension (PPH1). The BMPR2 gene has 13 exons and spans 190 Kb on chromosome 2q33.2. This P093 probemix contains MLPA probes for all BMPR2 exons. Please note that this P093 HHT MLPA kit has been used only on a limited number of patient samples. This kit is for research purposes only. Please report any problems or suggestions for improvements to info@mlpa.com.
Full mix description (pdf)
Last change in probe mix content: Lot 1107 (November 2007) Current Lot Number.: Lot 1107
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 2006 -- BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.
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