AI Article Synopsis

  • Identifying mouse models for human neurosensory non-syndromic recessive deafness (NSRD) would significantly enhance our understanding of this condition.
  • A human gene responsible for NSRD2 was localized to chromosome 11q13.5 through linkage analysis in a consanguineous family, achieving a high lod score with a specific microsatellite marker.
  • The refinement of NSRD2's location suggests a connection to the olfactory marker protein (OMP) gene, indicating that NSRD2 may be the human equivalent of the mouse deafness gene sh-1.

Article Abstract

The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NSRD2) to chromosome 11q13.5 by linkage analysis of a highly consanguineous family. A maximum lod score of 10.63 (theta = 0.018) was obtained for the microsatellite marker D11S527. Homozygosity mapping refined the localization of NSRD2 to a 6 cM interval also containing the olfactory marker protein (OMP) gene. The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. These results, and clinical data, suggest that NSRD2 is the human homologue of the mouse sh-1 gene.

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http://dx.doi.org/10.1093/hmg/3.6.989DOI Listing

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