Hypothesizing an Ancient Greek Origin of theGJB235delG Mutation: Can Science Meet History?
| Autor: | Michael B. Petersen, Manuela Villamar, Maria Grigoriadou, Ignacio del Castillo, Haris Kokotas, Aglaia Giannoulia-Karantana |
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| Rok vydání: | 2010 |
| Předmět: |
Heterozygote
Hearing loss Genes Recessive Ancient Greek Disease Biology Connexins White People Gjb2 gene 35delg mutation Gene Frequency medicine Humans Hearing Loss History Ancient Genetics (clinical) Sequence Deletion Genetics Specific mutation General Medicine Founder Effect language.human_language Connexin 26 Spain Greece Ancient Mutation (genetic algorithm) language medicine.symptom Founder effect |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 14:183-187 |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2009.0146 |
| Popis: | One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the most frequent disease mutations identified so far. The debate was so far between the arguments whether or not the 35delG mutation constitutes a mutational hot-spot or a founder effect; however, it was recently clarified that the latter seems the most likely. In an attempt to explore the origin and propagation of the 35delG mutation, several groups have reported the prevalence of the mutation and the carrier rates in different populations worldwide. It is now certain that the theory of a common founder prevails and that the highest carrier frequencies of the 35delG mutation are observed in southern European populations, giving rise to a discussion regarding the origin of the 35delG mutation. In this study, we discuss data previously published by our and other groups and also compare the haplotype distribution of the mutation in southern Europe, trying to understand the pathways of science and history and the conflict between them. |
| Databáze: | OpenAIRE |
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