Breast cancer gene mutation in the new detection method
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New York, April 22 (Reuters Medical News) published in the April 2 of the International Journal of Cancer, according to a study using cells rely on their own RNA detection mechanism design allele-specific expression analysis (AGE) can screen out most of the BRCA1 and BRCA2 gene mutation carriers.
University of Padova, Italy Marco Montagna Dr noted that the majority of breast cancer-related genes BRCA1 and BRCA2 mutations would lead to mRNA splicing, and activating cells called''has no intention of mRNA degradation '(NMD) detection mechanisms.
Researchers analyzed using AGE as a result of gene mutation selective mRNA degradation, or NMD. The results showed that AGE technology can detect allelic imbalance, thereby discovering associated with the BRCA1 and BRCA2 gene mutations and mRNA shear mutation carriers, a total of 11.
The BRCA1 gene mutation in a single non-shear not detected, but only mutant BRCA1 and BRCA2 gene mutations in 2%. In addition, 33 as a negative control patients without allele imbalance performance.
Researchers think, in general, AGE density analysis can clearly from the normal population screening out gene mutation carriers. Therefore, they recommended AGE susceptibility gene analysis as a means of inspection, such as check out allele imbalance, we need a means to determine the type mutations, mutation or genomic rearrangements.
But, AGE technology only need a RT-PCR, a simple step can detect gene open reading frame to shorten the gene mutation carriers. Due to the variety of human diseases observed that the NMD, on the principle, AGE mutations can be used to shear and complex mutation detection.
Dr. Montagna, AGE analysis will be used to increase the sensitivity mutation detection, thus more rapid screening out the gene mutation carriers.
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