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SALSA MLPA KIT P133 Kallmann-2
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
KALLMANN SYNDROME is a disease of idiopathic hypergonadotropic hypogonadism with anosmia or hyposmia. Defects in several genes can result in a Kallmann syndrome phenotype. This P133 MLPA kit contains probes for 11 of the 18 FGFR1 exons. Also included are probes for the GNRHR, GPR54, GNRH1 and NELF genes, involved, or suspected to be involved, in Kallmann syndrome. Please note the P133 probemix is complementary to our P132 Kallmann-1 probemix, which contains probes for most exons of the KAL1 gene on chromosome X. Loss-of-function mutations in FGFR1 underlie KAL2, whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. Suggested is that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling. In addition it has been proposed that the gender difference in anosmin-1 dosage (because KAL1 partially escapes X-inactivation) explains the higher prevalence of the disease in males. This P133 Kallmann-2 kit contains 11 MLPA probes for FGFR1 exons. Defects in the GPR54 gene on chromosome 19p13.3 are one of the possible causes of hypogonadotropic hypogonadism. The GPR54 gene comprises 5 exons, spanning some 4 kb of genomic DNA. Two probes for GPR54 are included. A candidate gene for the autosomal form of Kallmann syndrome is the NELF gene on chromosome 9q34.3. The NELF gene comprises 16 exons, spanning some 11 kb of genomic DNA. This P133 Kallmann probemix contains probes for three of the NELF exons. An autosomal recessive form of Kallmann can be caused by defects in the GNRH1 gene on chromosome 8p21. The GNRH1 gene comprises three exons, spanning some 4 kb of genomic DNA. This P133 Kallmann probemix contains probes for each of the three exons. Defects in the GNRHR gene on chromosome 4q21.2 are a cause of hypogonadotropic hypogonadism without anosmia. The GNRHR gene comprises three exons, spanning some 15 kb of genomic DNA. Probes for each exon are included in this kit.
Full mix description (word)
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 0106 (January 2006) : lot 0106
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