Bonné-Tamir B, DeStefano A L, Briggs C E, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin C T, Farrer L A
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat-Aviv, Israel.
Am J Hum Genet. 1996 Jun;58(6):1254-9.
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to <2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores > or = to 3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing. As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness.
耳聋是一种异质性疾病，影响着约千分之一的新生儿。基因连锁研究已经表明有十几个不同的基因座会导致耳聋。我们对一个患有常染色体隐性非综合征性耳聋的大型巴勒斯坦家族进行了全基因组连锁搜索。我们的研究结果表明，在这个家族中，缺陷基因DFNB10位于21号染色体端粒附近一个12厘摩的区域内。这一遗传距离相当于小于240万个碱基对。从该区域选取的五个标记基因座给出的最大对数优势分数大于或等于3。只有最靠近端粒的标记D21S1259显示出标记等位基因的纯合性，这表明DFNB10最靠近这个基因座。据我们所知，这是在此位置上首次发现与听力发育或维持有关的基因的证据。随着这些以及其他耳聋基因座的候选基因被分离和鉴定，它们在听力方面的作用将被揭示出来，并可能会促成预防耳聋机制的开发。
