SALSA MLPA P187 HPE probemix - 100 reactions

SALSA MLPA P187 HPE probemix - 100 reactions

application: Holoprosencephaly (HPE)
region: PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P187-100R

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

Detailní popis SALSA MLPA P187 HPE probemix - 100 reactions

P187-100R SALSA MLPA P187 Holoprosencephaly (HPE) probemix – 100 rxn

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE.

In addition to teratogenic agents, several genes have been implicated as the cause of HPE. At least 12 different loci have been associated with HPE and now several distinct human genes have been identified. These genes include Sonic Hedgehog (SHH, 3 exons, 9.4 kb of genomic DNA on 7q36.3, ~155 Mb from the p-telomere), ZIC2 (3 exons, 5 kb of genomic DNA on 13q32.3, ~101 Mb from the p telomere), SIX3 (2 exons, 4.2 kb of genomic DNA on 2p21, ~45 Mb from the p-telomere), PTCH1 (previous name PTCH, 28 exons, 65.6 kb of genomic DNA on 9q22.32, ~98 Mb from the p-telomere) and TGFB-induced factor homeobox 1 (TGIF1, previous name TGIF, 9 exons, 6.8 kb of genomic DNA on 18p11.31, ~3 Mb from the p-telomere).

In 2006, a 1.24 Mb duplication that included the FBXW11 gene (14 exons, 145.3 kb of genomic DNA on 5q35.1, ~171 Mb from the p-telomere) has been associated with holoprosencephaly (Koolen et al., 2006, J Hum Genet.). We have therefore included three FBXW11 probes from lot 0307 onwards. In addition, two probes for TRAPPC10 (previous name TMEM1, 23 exons, 94.2 kb of genomic DNA on 21q22.3, ~45 Mb from the p-telomere) have been included, which has been described as an epilepsy holoprosencephaly candidate. Furthermore, several reports have postulated that GLI2 (13 exons, 195.4 kb of genomic DNA on 2q14.2, ~121 Mb from the p-telomere) could be an interesting candidate for holoprosencephaly. Therefore 17 probes for GLI2 have been included in this probemix. The P187-B2 probemix contains probes for SHH, ZIC2, SIX3, TGIF1, TRAPPC10, GLI2, PTCH1 and FBXW11 genes. Probes for the SIX2 gene are included since it is in close proximity to the SIX3 gene. In addition, 6 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35 50% reduced relative peak height 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 height, 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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