Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

PLoS One. 2016 Oct 28;11(10):e0165650. doi: 10.1371/journal.pone.0165650. eCollection 2016.

Abstract

The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Connexin 26
  • Connexins / genetics
  • Genetic Testing*
  • Genotyping Techniques
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics*
  • Humans
  • Membrane Transport Proteins / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Sulfate Transporters

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26

Grants and funding

These investigations were supported by Key Clinical Department of Ministry of Health Foundation (62450-10) to Furong Ma.