Wilch Ellen, Zhu Mei, Burkhart Kirk B, Regier Martha, Elfenbein Jill L, Fisher Rachel A, Friderici Karen H
Genetics Program, Michigan State University, East Lansing, 48824, USA.
Am J Hum Genet. 2006 Jul;79(1):174-9. doi: 10.1086/505333. Epub 2006 May 17.
In a large kindred of German descent, we found a novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2. Qualitative polymerase chain reaction-based allele-specific expression assays showed that expression of both GJB2 and GJB6 from the novel allele is dramatically reduced. This is the first evidence of a deafness-associated regulatory mutation of GJB2 and of potential coregulation of GJB2 and GJB6.
在一个德裔大家族中，我们发现了一个新的等位基因，当它与GJB2基因的35delG等位基因呈反式排列时，会与耳聋共分离。基于定性聚合酶链反应的等位基因特异性表达分析表明，来自该新等位基因的GJB2和GJB6的表达均显著降低。这是GJB2耳聋相关调控突变以及GJB2和GJB6潜在共调控的首个证据。
