SALSA MLPA P074 AR probemix - 50 reactions

SALSA MLPA P074 AR probemix - 50 reactions

application: Androgen insensitivity syndrome (AIS)
region: AR Xq12
  Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P074-050R

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

Detailní popis SALSA MLPA P074 AR probemix - 50 reactions

P074-050R SALSA MLPA P074 Androgen receptor (AR) probemix – 50 rxn

The androgen insensitivity syndrome (AIS), formerly known as the testicular feminization syndrome (TFM), is a recessive disorder in which affected males have female external genitalia, female breast development, blind vagina and female adnexa, and abdominal or inguinal testes, despite a  normal male (2A + XY) karyotype. Partial androgen insensitivity results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome). AIS is caused by mutations in the gene for the androgen receptor (AR).

X-linked spinal and bulbar muscular atrophy (SBMA, SMAX1), also known as Kennedy disease, is a recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy and gynecomastia. The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy and is caused by a trinucleotide CAG repeat expansion in exon 1 of the gene encoding the androgen receptor. CAG repeat numbers are usually over 38 in SBMA patients, whereas healthy individuals have 10 to 36 CAG repeats. Note that the length of the trinucleotide repeat cannot be measured by MLPA.

The AR gene (8 exons), spans ~187 kb of genomic DNA and is located on chromosome Xq12, 67 Mb from the p-telomere. The P074-A3 probemix contains two probes for each of the 8 exons; although exons 6 and 7 are only represented by one probe each. Furthermore two probes have been included for the first exon of transcript variant 2 (NM_001011645.2) which is located in intron 1 of the reference standard transcript variant 1. In addition, 9 reference probes are included in this probemix, detecting several different locations on the X chromosome.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the AR gene in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35 50% reduction in relative peak height. 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 this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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