Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele

被引：47

作者：

Wilch, Ellen

Zhu, Mei

Burkhart, Kirk B.

Regier, Martha

Elfenbein, Jill L.

Fisher, Rachel A.

Friderici, Karen H.

机构：

[1] Michigan State Univ, Dept Microbiol & Mol Genet, E Lansing, MI 48824 USA

[2] Michigan State Univ, Genet Program, E Lansing, MI 48824 USA

[3] Michigan State Univ, Dept Epidemiol, E Lansing, MI 48824 USA

[4] Michigan State Univ, Dept Audiol & Speech Sci, E Lansing, MI 48824 USA

[5] Michigan State Univ, Dept Pediat & Human Dev, E Lansing, MI 48824 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2006年 / 79卷 / 01期

关键词：

D O I：

10.1086/505333

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：174 / 179

页数：6

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