Method for detecting 20 mutation sites of deaf genes

The invention relates to a method for detecting 20 hot mutation sites of four deaf genes such as GJB2, SLC26A4, GJB3 and 12S rRNA in a clinical sample, designing amplimers and single base extension primers of different sites aiming at abnormal SNP gene sites of the four genes by a matrix-assistant l...

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Hauptverfasser: GAO XUNIAN, LIN ZIHUI, LI FENXIA, LI ERHUA, LI MING, ZENG LI, HE DAN, LIU QIXIANG
Format: Patent
Sprache:eng
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Zusammenfassung:The invention relates to a method for detecting 20 hot mutation sites of four deaf genes such as GJB2, SLC26A4, GJB3 and 12S rRNA in a clinical sample, designing amplimers and single base extension primers of different sites aiming at abnormal SNP gene sites of the four genes by a matrix-assistant laser desorption/ionization flight time mass spectrum detection method and then carrying out mass spectrometry of a specific SNP site genotype.