Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele
| Autor: | Mei Zhu, Karen H. Friderici, Rachel Fisher, Jill L. Elfenbein, Martha K. Regier, Ellen Wilch, Kirk B. Burkhart |
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| Jazyk: | angličtina |
| Předmět: |
Male
Biology medicine.disease_cause Connexins law.invention law Report Gene expression Connexin 30 medicine Genetics otorhinolaryngologic diseases Humans Genetics(clinical) Allele Alleles Genetics (clinical) Polymerase chain reaction Mutation Extramural Molecular biology Null allele Pedigree Connexin 26 biology.protein Female Trans-acting GJB6 |
| Zdroj: | The American Journal of Human Genetics. (1):174-179 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/505333 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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