Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P133 Kallmann-2 probemix - 100 reactions

SALSA MLPA P133 Kallmann-2 probemix - 100 reactions

application: Kallmann syndrome
region: FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P133-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P133 Kallmann-2 probemix - 100 reactions

P133-100R SALSA MLPA P133 Kallmann-2 probemix – 100 rxn

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 probemix contains probes for 11 of the 18 FGFR1 exons. Also included are probes for the GNRHR, KISSR1 (GPR54), GNRH1, NELF, PROK2, and PROKR2 genes, involved, or suspected to be involved, in Kallmann syndrome.

Loss-of-function mutations in FGFR1 underlie Kallmann syndrome 2 (KAL2), whereas a gain-of-function mutation in FGFR1 has been shown to cause a  form of craniosynostosis. The FGFR1 gene has 21 exons and spans 57 kb on chromosome 8p12. This P133-C1 Kallmann-2 probemix contains 11 probes for FGFR1 exons.
Defects in the KISS1R (GPR54) gene on chromosome 19p13.3 are one of the possible causes of hypogonadotropic hypogonadism. The KISS1R (GPR54) gene comprises 5 exons, spanning ~4 kb of genomic DNA. Three probes for KISS1R 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 ~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 ~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 ~15 kb of genomic DNA. Probes for each exon are included in this probemix.

This SALSA MLPA probemix is designed to detect deletions/duplications of one or more exons of the aforementioned genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a  mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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