Gu J Z, Lin X, Wells D E
Department of Biology, University of Houston, Houston, Texas, 77204, USA.
Genomics. 1996 Jul 1;35(1):6-10. doi: 10.1006/geno.1996.0316.
To identify candidate genes for Branchio-oto-renal (BOR) syndrome, we have made use of a set of cosmids that map to 8q13.3, which has previously been shown to be involved in this syndrome. These cosmids were used as genomic clones in the attempts to isolate corresponding cDNAs using a modified hybrid selection technique. cDNAs from the region were identified and used to search for sequence similarity in human or other species. One cDNA clone was found to have 89% sequence similarity to the bovine B22 subunit of NADH-ubiquinone oxidoreductase, a mitochondrial protein in the respiratory electron transport chain. Given the history of other mitochondrial mutations being involved in hearing loss syndromes, this gene should be considered a strong candidate for involvement in BOR.
为了鉴定鳃-耳-肾（BOR）综合征的候选基因，我们利用了一组定位到8q13.3的黏粒，先前已表明该区域与该综合征有关。这些黏粒被用作基因组克隆，尝试使用改良的杂交筛选技术分离相应的cDNA。鉴定出该区域的cDNA，并用于搜索人类或其他物种中的序列相似性。发现一个cDNA克隆与NADH-泛醌氧化还原酶的牛B22亚基具有89%的序列相似性，NADH-泛醌氧化还原酶是呼吸电子传递链中的一种线粒体蛋白。鉴于其他线粒体突变与听力损失综合征有关的历史，该基因应被视为参与BOR的有力候选基因。
