Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
basic_science · Level V
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- Record sourced from PubMed, PMID 16773579.
- Also identified by PMC identifier 1474119.
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Abstract
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.
Medical subject headings
- Alleles
- Connexins