Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C
Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.
Hum Mol Genet. 1996 Jul;5(7):1061-4. doi: 10.1093/hmg/5.7.1061.
We report here, the localization of a new recessive non-syndromal deafness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family. Affected individuals suffer from congenital profound sensorineural hearing loss. A maximum LOD score of 6.40 (theta = 0.00) was obtained with locus D10S535. Analysis of patients carrying recombinations mapped the gene distal to D10S529 and proximal to D10S532, delineating an interval between 11 and 15 cM. Three deaf mouse mutants Jackson circler (jc), Waltzer (v) and Ames waltzer (av) have been localized to the homologous murine region on chromosome 10. Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment.
我们在此报告，通过连锁分析将一个新的隐性非综合征性耳聋基因（DFNB12）定位于一个逊尼派家庭的10q21 - 22区域。受影响个体患有先天性重度感音神经性听力损失。在基因座D10S535处获得了最大对数优势分数6.40（θ = 0.00）。对携带重组的患者进行分析，将该基因定位在D10S529远端和D10S532近端，划定了一个11至15厘摩的区间。三个耳聋小鼠突变体杰克逊循环者（jc）、华尔兹（v）和艾姆斯华尔兹（av）已被定位于10号染色体上的同源小鼠区域。这些小鼠突变体中的每一个都是与DFNB12相关听力障碍的候选小鼠模型。
