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SALSA MLPA KIT P183 EDA (ED1)
The most common form of ectodermal dysplasia (ED) in human is X-linked hypohidrotic ectodermal dysplasia (XLHED) with an approximated incidence of 1 per 100,000 births. This syndrome is characterized by absence or aberrant development of exocrine sweat glands, leading to heat intolerance with excessively dry skin, abnormal spiky or absent teeth and sparse hair on the scalp and body. These structures are affected together or in different combinations. It has been shown that mutations of the X-linked ED1 gene are the major causative factor for this disorder. The ED1 gene is located at Xq12-q13.1 and covers 423 kb of genomic DNA. It encodes the ectodysplasin-A (EDA) protein, which has recently been recognized as a member of the tumor necrosis factor (TNF) superfamily. This P183 ED1 probemix contains 10 probes for each of the 8 exons that are represented in the NM_001399.4 reference sequence , as well as 12 control probes located elsewhere on the X chromosome. This MLPA kit is designed to detect deletions / duplications of one or more exons of the ED1 gene. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In Female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0506 (May 2006) Current Lot Number.: Lot 0707
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
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