Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
✍ Scribed by R. Rabionet; L. Zelante; N. López-Bigas; L. D'Agruma; S. Melchionda; G. Restagno; M.L. Arbonés; P. Gasparini; X. Estivill
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 36 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0340-6717
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We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP metho
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in