Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA ME032 UPD7-UPD14 probemix - 100 reactions

SALSA MLPA ME032 UPD7-UPD14 probemix - 100 reactions

application: Uniparental disomy
region: 6q24, 7p12, 7q32 and 14q32 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu ME032-100R

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

Detailní popis SALSA MLPA ME032 UPD7-UPD14 probemix - 100 reactions

ME032-100R SALSA MLPA ME032 UPD7-UPD14 probemix – 100 rxn

Uniparental disomy (UPD) describes the inheritance of both homologues of a  chromosome pair from the same parent. The biological basis of UPD syndromes is disturbed genomic imprinting. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. Whilst paternal UPD7 is clinically unapparent, maternal UPD7 is one of several causes of Silver-Russell syndrome. Presentation of paternal UPD14 is a thoracic dysplasia syndrome with mental retardation and limited survival. Findings in maternal UPD14 show an age-dependent overlap with the well-known maternal UPD15 Prader-Willi syndrome and are dominated by initial failure to thrive followed by obesity, learning difficulties and precocious puberty (Hoffmann K and Heller R (2011) Best Pract Res Clin Endocrinol Metab. 25:77-100).

This probemix contains probes that target imprinted regions on chromosome 7 and 14. Furthermore, probes for chromosome 6 and 14 are included, targeting genes that have been shown to interact with the tumour suppressor p53 and to regulate p53 target gene expression.

The ME032-A1 probemix contains probes for the genes: PLAGL1, GRB10, MEST, DLK1, MEG3, RTL1 and MIR380. The PLAGL1 gene (9 exons) spans ~124 kb of genomic DNA and is located on 6q24.2, ~144 Mb from the p-telomere. This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. This gene is imprinted, with preferential expression of the paternal allele in many tissues. The GRB10 gene (19 exons) spans ~203 kb of genomic DNA and is located on 7p12.1, ~51 Mb from the p-telomere. This gene encodes a  growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This gene is imprinted in a highly isoform- and tissue specific manner. The MEST gene (14 exons) spans ~20 kb of genomic DNA and is located on 7q32.2, ~130 Mb from the p-telomere. This gene encodes a member of the a/b hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues. The DLK1 gene (5 exons) spans ~8 kb of genomic DNA and is located on 14q32.2, ~101 Mb from the p-telomere. This gene encodes a trans-membrane protein involved in the differentiation of several cell types. This gene is imprinted, with an expression from the paternal allele. The MEG3 gene (11 exons) spans ~35 kb of genomic DNA and is located on 14q32.2, ~101 Mb from the p-telomere. MEG3 is a maternally expressed imprinted gene which appears to function as an RNA molecule; multiple splice variants are observed in the available sequence data and a pituitary transcript variant has been associated with inhibited cell proliferation. The RTL1 gene (1 exon) spans ~4 kb of genomic DNA and is located on 14q32, ~101 Mb from the p-telomere. This gene is a  retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. The microRNA MIR380 spans 61 bp of genomic DNA and is located on 14q32.31, ~101 Mb from the p-telomere. This microRNA is involved in regulation of p53.

The ME032-A1 probemix contains six probes specific for the 6q24.2 region, 11 probes specific for the 7p12.1 and 7q32.2 regions and 12 probes specific for the 14q32.2 region. Thirteen of these probes contain a HhaI recognition site and provide information about the methylation status of the target sequence. Besides the detection of aberrant methylation, all 29 probes present will give information on copy number changes in the analysed sample.

In addition, 15 reference probes are present which detect genes located outside chromosome 6, 7 and 14. Furthermore, two probes with a HhaI recognition site are included, which are unmethylated in most blood-derived control DNA samples. Therefore, they don’t generate a  signal after HhaI digestion in normal controls and can be used to confirm complete digestion by the HhaI enzyme (digestion control probes). The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://dgv.tcag.ca/dgv/app/home).

The PALGL1, GRB10, MEST and MEG3 probes target imprinted regions: one allele is methylated, the other is unmethylated in normal control samples. As compared to reference probes that do not contain a HhaI site, the signal of the MS-MLPA probes in imprinted regions is reduced by 50% upon HhaI digestion in DNA samples from normal individuals. The probes for DLK1 and RTL1 are not located in imprinted regions and will not generate information on methylation status of these genes.

This SALSA® MS-MLPA® probemix can be used to detect aberrant methylation of one or more sequences of the four aforementioned genes. Methylation levels can be different for different tissues. Please use DNA derived from the same type of tissue and purified by the same method as reference sample. This SALSA® MS-MLPA® probemix can also be used to detect deletions/duplications of one or more sequences in the aforementioned gene(s) 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 which will not be detected by this SALSA® MLPA® test.

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