PCR-GeneScan technique for detection of the GJB2 235 delC and mtDNA A1555G mutations for hereditary hearing loss / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To develop a molecular genetic assay to detect the GJB2 235 delC and mtDNA A1555G mutations simultaneously based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques.@*METHOD@#One hundred and twenty samples were pooled in our experiment to test the feasibility of new method. The PCRs were performed and the size fragment of PCR products were analyzed on ABI 3100 Genetic Analyzer. Data analysis were taken using the software package of GeneScan and GeneMarker.@*RESULT@#Seventeen samples of DNA with 235 delC and 17 samples with A1555G were tested using this protocol. A false-positive sample without GJB2 235 delC mutation was tested.@*CONCLUSION@#This assay can detect both mutations in pooled DNA tests and will be a useful tool for newborn screening and carrier screening for the hereditary hearing loss in Chinese population.