Easy, Rapid, and Cost-Effective Methods for Identifying Carriers of Recurrent GJB2 Mutations Causing Nonsyndromic Hearing Impairment in the Greek Population
| Autor: | Aglaia Giannoulia-Karantana, Haris Kokotas, Thalia Antoniadi, Maria Grigoriadou, Angeliki Hatzaki, Michael B. Petersen |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Cost-Benefit Analysis Hearing Loss Sensorineural Population Genes Recessive Single-nucleotide polymorphism Deafness Biology Polymerase Chain Reaction Connexins Gjb2 gene Gene Frequency Genotype otorhinolaryngologic diseases Humans Genetic Testing Allele Hearing Loss education Genetics (clinical) DNA Primers Sequence Deletion Genetics education.field_of_study Base Sequence Greece Genetic Carrier Screening Haplotype General Medicine Connexin 26 Mutation Mutation (genetic algorithm) Female Greek population Polymorphism Restriction Fragment Length |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 14:189-192 |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2009.0136 |
| Popis: | A variety of techniques have been developed for screening the GJB2 gene for known and unknown mutations, especially the most common mutation in the Caucasian population, the c.35delG. Other mutations that have been so far characterized in the GJB2 gene seem to have different geographical distributions, and therefore there is an interest in identifying recurrent mutations specific for each population and developing easy and rapid screening techniques. Here we present easy screening protocols for already identified recurrent mutations in the Greek population. Developing easy, rapid, and cost-effective screening methods will facilitate the detection of GJB2 recurrent mutation carriers, at large, in the Greek population. |
| Databáze: | OpenAIRE |
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