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© 1994 Oxford University Press

OTHER

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

Parry Guilford1, Hamadi Ayadi2, Stéphane Blanchard1, Hassan Chaib1, Denis Le Paslier3, Jean Weissenbach1,4, Mohamed Drira5 and Christine Petit1,*

1Unité de Génétique Moléculaire Humaine, Institut Pasteur 25 rue du Dr Roux, 75015 Paris, France 2Laboratoire d'Immunologie, Faculté de Médecine Sfax, Tunisia 3Centre d'Etude du Polymorphisme Humain (CEPH) 27 rue Juliette Dodu, 75010 Paris 4Généthon, 1 rue de I'Internationale BP59–9102 Evry, France 5Service d'ORL, HÔpital Habib Bourguiba Sfax, Tunisia

*To whom correspondence should be addressed

Received March 11, 1994; Revised April 11, 1994; Accepted April 11, 1994

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, non-syndromic 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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