SALSA MLPA P340 EHMT1 probemix - 50 reactions

9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.

region: EHMT1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P340-050R

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

Detailní popis SALSA MLPA P340 EHMT1 probemix - 50 reactions

P340-025R SALSA MLPA P340 EHMT1 probemix – 50 rxn

description
Defects in the EHMT1 gene on chromosome 9q are a cause of chromosome 9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome. Common features in patients with 9qSTDS are severe mental retardation, facial dysmorphism, cardiac anomaly, seizures, hearing loss, and behavioral problems.

Kleefstra et al. J. Med. Genet. 46:598-606 (2009) examined the sizes of 9q deletions in 16 patients which were identified by routine subtelomeric chromosome testing. The deletion breakpoints and sizes were heterogeneous: telomeric deletions extending from the 9q telomere into EHMT1, or completely including EHMT1 were detected in 9 patients. Interstitial deletions, ranging from only 40 kb to 3.1 Mb were detected in 7 patients. The smallest 40 kb deletion comprised exons 11 to 25 of the EHMT1 gene. The authors concluded that haploinsufficiency for EHMT1 is the basis for the phenotypic features in this disorder.

The EHMT1 gene (28 exons) spans ~217 kb of genomic DNA and is located on 9q34, 140 Mb from the p-telomere. Distance from the last EHMT1 exon to the q-telomere is only 500 kb. The P340-A2 probemix contains one probe for each exon of the EHMT1 gene. Two probes are present for exons 2, 10, 20 and 27. This probemix furthermore contains two probes for C9orf37 which is located very close to EHMT1 exon 1, and one probe for the CACNA1B gene which is located between EHMT1 and the q-telomere. Finally, 11 reference probes are included in this probemix, detecting 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 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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