Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P361 USH2A mix 1 probemix - 50 reactions

SALSA MLPA P361 USH2A mix 1 probemix - 50 reactions

application: Usher syndrome
region: USH2A 1q41
  Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P361-050R

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

Detailní popis SALSA MLPA P361 USH2A mix 1 probemix - 50 reactions

P362-050R SALSA MLPA P362 USH2A mix 2 probemix – 50 rxn

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3  Usher syndromes. Mutations within the USH2A gene have been associated with Usher syndrome type IIa and retinitis pigmentosa.

The USH2A gene (72 exons) spans ~800 kb of genomic DNA and is located on chromosome 1q41, 216 Mb from the p-telomere. The P361 and P362 probemixes together contain one probe for each exon of the USH2A gene. The P361-A1 probemix contains even exon numbers and the P362-A1 contains odd exon numbers of USH2A. In both probemixes, 9 reference probes are included detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the USH2A gene 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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