Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C
Unité de Génétique Moléculaire Humaine, Institut Pasteur, Paris, France.
Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989.
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.
鉴定各种形式的人类神经感觉性非综合征性隐性耳聋的小鼠模型将成为人类耳聋研究的一项重大进展。在此，我们通过对一个高度近亲结婚的家系进行连锁分析，将一个人类神经感觉性、非综合征性隐性耳聋（NSRD2）基因定位到11号染色体q13.5区域。微卫星标记D11S527获得了最大对数优势分数10.63（θ = 0.018）。纯合性定位将NSRD2的定位范围缩小到一个6厘摩的区间，该区间还包含嗅觉标记蛋白（OMP）基因。OMP的小鼠同源物与常染色体隐性耳聋基因sh-1紧密连锁。这些结果以及临床数据表明，NSRD2是小鼠sh-1基因的人类同源物。
