title: SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes.
abstract: In the present study, to assess the feasibility of the SNPscan technique for mutation screening in patients with nonsyndromic hearing loss (NSHL) and neonatus in China, the SNPscan technique was compared with the SNaPshot screening system. Chinese patients (162) with NSHL were used as the experimental group and 276 children without HL were used as the control group, respectively. SNPscan detected molecular defects in 112 patients (68.5%). In this technique, 83 patients (51.2%) with homozygous or compound heterozygous had confirmed molecular etiology in the GJB2, SLC26A4, and MT-RNR1 genes. By contrast, SNaPshot detected molecular defects in 103 patients (63.6%). In this method, 72 subjects (44.4%) with HL were confirmed to have NSHL caused by these mutations. This study demonstrates that SNPscan performs equally well or better than earlier routine genotyping method for genetic hearing loss, with possibility of detecting a larger variety of mutation.
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China. Electronic address: lihaiboszh@163.com.
authors.forename: Haibo
authors.initials: H
authors.lastname: Li
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
authors.forename: Benjing
authors.initials: B
authors.lastname: Wang
authors.affiliation: Genesky Diagnostics (Suzhou) Inc., Suite#A2, 218 Xinghu Street, SIP, Suzhou 215123, China.
authors.forename: Deyuan
authors.initials: D
authors.lastname: Liu
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Li
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China. Electronic address: lihongszh@163.com.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D003638:Deafness / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Gene mutation; Hearing loss