Multiplex PCR with primers validated standard, low application of DNA and high sensitivity for the diagnosis of cerebellar ataxias Espino - type 1, 2, 3, 6, and 7 (SCA1, SCA2, SCA3, SCA6 and SCA7)

摘要

This invenu00c7u00c3o refers to a methodology of molecular test for the most common espinocerebelosas ataxias (SCA1, SCA2, SCA3, SCA6 and SCA7).The method is based on multiplex PCR which uses oligonucleu00d3tidos 5 pairs of primers (primer) (1), which combined with fluorochromes, 6 - famu00ae, vicu00ae, nedu00ae, petu00ae and (lizu00ae) (1,2) generate a range of differential amplicu00d5es, specific to each of the SCAs (3),After amplificau00c7u00c3o simultaneous by PCR using a program of amplificau00c7u00c3o by PCR in a thermal cycler (4) which allows genotyping a single inflammatory of the loci of SCA1, 2, 3, 6, and 7 (5). This invenu00c7u00c3o is applicable in the scope of activities of entities linked to health or private companies that forneu00c7am molecular diagnostic services.