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SALSA MLPA KIT P269 FRMD7
[http://www.geneclinics.org/profiles/hht/details.html]
Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases or it can be inherited autosomal or X-linked. The latter form is called idiopathic or motor nystagmus (CIN). The great majority of idiopathic congenital nystagmus is linked to Xq26 (NYS1 locus) and is due to defects in the recently identified FRMD7 gene (Patrick Tarpey et al, 2006). FRMD7 (FERM domain-containing-7) previously known as LOC90167, is a newly identified member of the FERM family. The gene FRMD7 comprises 12 exons, spanning about 51 kb of genomic DNA and is located on chromosome Xq26. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the FRMD7 gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
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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Last change in probemix content Current lot number
: lot 0807 (August 2007) : lot 0807
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