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SALSA MLPA KIT P163 GJB-WFS1
Lot 0208: As compared to the previous lots 0707 and 0606, three GJB2 probes have been added that are specific for the 35delG, IVS1+1G>A and 313del14 mutations. In addition, two DNA Denaturation (DD) control fragments at 88 and 96 nt are now present. The version number of this lot 0208 is B1. Between 1/2000 (0.05%) and 1/1000 (0.1%) of children are born with profound hearing loss. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic. The disorder DFNB1 (Deafness, Neurosensory, autosomal recessive 1), is caused by defects of the GJB2 gene and the GJB6 gene, which accounts for 50% of autosomal recessive nonsyndromic hearing loss in many populations. In a large fraction (10-40%) of patients only one mutant allele is identified. The carrier rate in the general population for a recessive deafness-causing GJB2 mutation is about one in 33. Defects of the GJB3 gene, located on chromosome 1p35.1, coding for conexin 31, can cause early-onset bilateral non-syndromic sensorineural hearing loss, as well as erythrokeratodermia variabilis, a skin disorder. Wolfram syndrome is caused by defects of the WFS1 gene. WFS1 is located on chromosome 4p16.1, and codes for the connexin 30 protien. The highly variable clinical phenotype of Wolfram syndrome often includes hearing impairment. The most common phenotype of Wolfram syndrome includes insulin-dependent diabetes mellitus and bilateral progressive optic atrophy. Probes for all GJB2 and GJB6 exons are present in this P163 probemix. In addition several probes for the 13q11 region are included. In addition to MLPA kit P163 GJB-WFS1, MPA kits for EYA1, involved in Branchiootorenal syndrome (P153 EYA1), and for the PAX3 and MITF genes involved in Waardenburg syndrome, the most common type of autosomal dominant syndromic hearing loss (P186 PAX3). A probemix for Alport syndrome is in preparation.
Full mix description (pdf)
Last change in probe mix content: Lot 0208 (February 2008) Current Lot Number.: Lot 0208
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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