Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C
Laboratoire de Biochimie, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Lebanon.
Eur J Hum Genet. 1998 May-Jun;6(3):245-50. doi: 10.1038/sj.ejhg.5200177.
Deafness is the most frequent sensorineural defect in children. The vast majority of the prelingual forms of isolated deafness are highly genetically heterogeneous with an autosomal recessive mode of inheritance. Using linkage analysis, we have mapped the gene responsible for a severe progressive sensorineural hearing loss, DFNB13, segregating in a large consanguineous family living in an isolated region in northern Lebanon. A maximum lod score of 4.5 was detected for markers D7S661-D7S498. Recombination events and homozygosity mapping by descent define a 17 cM gene interval in the chromosome region 7q34-q36, between the markers D7S2468/D7S2505, on the proximal side, and D7S2439, on the distal side.
耳聋是儿童中最常见的感音神经性缺陷。绝大多数孤立性耳聋的语言前形式具有高度的遗传异质性，呈常染色体隐性遗传模式。我们通过连锁分析，对居住在黎巴嫩北部一个孤立地区的一个大型近亲家庭中分离出的导致严重进行性感音神经性听力损失的基因DFNB13进行了定位。标记D7S661-D7S498的最大对数优势得分为4.5。通过系谱中的重组事件和纯合性定位，在染色体区域7q34-q36中标记D7S2468/D7S2505（近端）和D7S2439（远端）之间确定了一个17厘摩的基因区间。
