A Comparative Study of SNPscan and Sanger Sequencefor Common Deafness Gene / 听力学及言语疾病杂志

ABSTRACT

Objective To compare the advantages and disadvantages of SNPscan and Sanger sequence which are both used to detect the common deafness gene mutations in non-syndromic hearing loss (NSHL) in Gansu Province.Methods Peripheral blood samples were obtained from Dongxiang, Yugu and Baoan people with moderately severe to profound sensorineural hearing loss in Gansu province to extract genomic DNA.SNPscan was used to detect the 115 mutations in the common pathogenic GJB2 gene, SLC26A4 gene and mtDNA gene.Results We used the SNPscan to screen the mutation of GJB2 gene,mtDNA A1555G and mtDNA C1494T, SLC26A4 gene of sensorinural deafness patients from Gansu Province.The mutation rate of these three genes was 23.18% (35/151), and the mutation rate of Dongxiang, Yugu, Baoan was 21.31% (26/122), 54.54% (6/11), 16.67% (3/18), respectively.Compared with the Sanger sequence, the results were statistically insignificant(P>0.05).The detection rates in the three genes of SNPscan were 11.26% (17/151), 1.32% (2/151) and 0.66% (1/151),respectively , and the detection rates of Sanger sequence were 9.93% (15/151), 1.32% (2/151) and 0.66% (1/151) ,respectively.The results of the two methods were compared.The results were statistically insignificant (P>0.05).Time, cost and flux, SNPscan method is superior to Sanger sequencing.Conclusion Compared with the Sanger sequence, SNPscan is more lighter in workload, less time-consuming, higher-throughput, lower cost, and can get more meaningful mutations and reduce the false negative rates.