Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis

Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1080-3. doi: 10.1016/j.ijporl.2014.04.009. Epub 2014 Apr 16.

Abstract

Objectives: To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is highly prevalent in East Asians and strongly associated with postnatal childhood hearing impairment.

Methods: A total of 6460 newborn blood-spot DNA samples were screened by high-resolution melting analysis (HRMA).

Results: The screening results were further verified by direct sequencing of 28 homozygous, 545 heterozygous and 200 wild-type samples.

Conclusion: Our study indicated that the HRMA-based bloodspot screening method was of very high sensitivity and specificity and was suitable for large-scale screening of the p.V37I variants in newborns.

Keywords: GJB2 gene; High-resolution melting analysis; Screening; p.V37I.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • DNA / blood*
  • Genetic Predisposition to Disease / genetics*
  • Hearing Loss / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Mutation*
  • Neonatal Screening*
  • Polymerase Chain Reaction

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26
  • DNA