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SALSA MLPA KIT P132 Kallmann-1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
X-LINKED KALLMANN SYNDROME is caused by defects of the KAL1 gene on chromosome Xp22. Kallmann syndrome is a disease of idiopathic hypergonadotropic hypogonadism with anosmia or hyposmia. KAL1 encodes the extracellular matrix protein anosmin-1 that plays a key role in the migration of GnRH neurons and olfactory nerves to the hypothalamus. The KAL1 gene has 14 exons, spanning approximately 200 Kb of genomic sequence. This P132-Kallmann1 kit contains MLPA probes for each of the 14 KAL1 exons. The exon 10 probe is not reliable yet and will be replaced in future lots. Two probes are present each for exon 1 and 14 sequences. Also other probes in the Xp22 region, including probes for the STS gene involved in X-linked Ichthyosis and the OA1 gene involved in ocular albinism. In addition to X-linked pedigrees, autosomal dominant and recessive kindreds with Kallmann syndrome have been reported. Please note that the P133 Kallmann-2 probemix contains probes for most exons of the FGFR1 gene and some probes for the NELF, GNRHR, GPR54 and GNRH1 genes.
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 0507 : lot 0507
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