A novel genotyping technique for discriminating LVAS-associated high-frequency variants in SLC26A4 gene.

ABSTRACT: An increasing number of biological and epidemiological evidence suggests that c.919-2A > G and c.2168A > G variants of solute carrier family 26, member 4 (SLC26A4) gene play a critical role in the development of large vestibular aqueduct syndrome (LVAS). In this study, we developed a rapid genotyping method for discriminating LVAS-associated high-frequency variants in SLC26A4 gene. The genotyping technique consists of 3' terminal exonuclease-resistant phosphorothioate-modified allele specific primer extension mediated by exo⁺ polymerase. In PCR amplification by Pfu polymerase, allelic specific primers perfectly matching wild type allele were extended while no specific products were yielded from primers targeting variant allele. Similarly, allelic specific primers perfectly match

SUBMITTER: Zhou C 

PROVIDER: S-EPMC7492351 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature