Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome.

ABSTRACT: In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardiovascular diseases with a genetic background. The present opinion article wants to remark that "targeted" SSM is still effective as a first-line approach for the molecular diagnosis of some specific conditions, as is the case for Andersen-Tawil syndrome (ATS). ATS is described as a rare multisystemic autosomal dominant channelopathy syndrome caused mainly by a heterozygous mutation in the KCNJ2 gene . KCJN2 has particular characteristics that make it attractive for "directed" SSM.

SUBMITTER: Totomoch-Serra A 

PROVIDER: S-EPMC5635448 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature