Available Assays

A number of mutation detection strategies can be used to screen GJB2 for nucleotide changes, including restriction enzyme digestion, allele-specific polymerase chain reaction (AS-PCR) analysis, single-strand conformation polymorphism (SSCP) analysis, heteroduplex analysis (HA), denaturing high-performance liquid chromatography (DHPLC), and direct sequencing. Of these methods, SSCP and HA were among the first methods to be used to detect genetic polymorphisms and remain very popular because of their simplicity. However, the gold standard for establishing the identity of unknown nucleotide sequences is direct sequencing.

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