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MT-RNR1-MAMAPCR real time

Quantification assay of the A1555G mutation in the MT-RNR1 gene         cod. BM-019

Principle of the test: Detect A1555G mutation in the MT-RNR1 gene related to hearing loss

Technology: MAMA PCR real time

Gene Target: MT-RNR1

Specimen: DNA

Results: Haplotype set

Reporting Units: Arbitrary Units (AU)

Number of tests: 25 tests BM-019

Kit storage: -20°C

Necessary equipment: 7500 Real Time PCR System

Status: Ready to use

MT-RNR1-MAMAPCR real time  cod. BM-019

Quantification assay of the A1555G mutation in the MT-RNR1 gene

·      MT-RNR1-MAMAPCR real time Quantification complete kit 25 tests BM-019

Hearing loss is commonly divided into nonsyndromic and syndromic. Nonsyndromic deafness is that without additional phenotypes, and syndromic is a hearing loss which is part of a group of signals, constituting a syndrome. The A1555G mutation in the MT-RNR1 gene is the most frequently described cause of deafness. In the A1555G mutation by the substitution of nitrogenated bases, a new pair of C-G bases appear in human the 12S rRNA gene, making it similar to the region that corresponds to the 16S rRNA gene of Escherichia coli, bacterial decoding region of rRNA, in which the aminoglycoside link results in protein translation errors, and subsequently in bacterial death. Mutations in the sub-unit 12S of rRNA probably alter the secondary structure of the molecules making it very similar to the 16S rRNA molecules of the E. coli. As the 16S rRNA molecule is the main target of the aminoglycoside action, this can explain the aminoglycoside increased effect in individuals who present this mutation, leading to hearing loss.

We have developed a MAMA PCR real time analysis for the detection of the A1555G mutation in the MT-RNR1 gene in the mitochondrial DNA.

Reference

1.      MITOMAP: A human mitochondrial genome database. [Last accessed June 20, 2012]. Available at http://mitomap.org/MITOMAP .

2.      Hamasaki K, Rando RR. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry. 1997;36:12323–8.

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