A rare mutation in the primer binding region of the Amelogenin X homologue gene |
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| Institution: | 1. Institute of Forensic Medicine, Medical University of Gdansk, Dębowa 23, 80-204 Gdansk, Poland;2. Institute of Forensic Research, Krakow, Poland;1. Departamento de Estadística e Investigación Operativa, Universitat Politècnica de Catalunya (UPC), Barcelona, España;2. Institut Universitari d’Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol), Barcelona, España;3. Servei d’Epidemiologia, Agència de Salut Pública de Barcelona, Barcelona, España;4. Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública (CIBERESP), Barcelona, España;1. Fabrication Technology Research Department, Advanced Technology and New Materials Research Institute (ATNMRI), City of Scientific Research and Technology Applications (SRTA-City), Alexandria 21934, Egypt;2. Chemical and Petrochemical Engineering Department, Egypt-Japan University of Science and Technology (E-JUST), New Borg El-Arab City, Alexandria 21934, Egypt;3. Advanced Technology and New Materials Research Institute (ATNMRI), City of Scientific Research and Technology Applications (SRTA-City), Alexandria 21934, Egypt;1. School of Transportation, Southeast University, Southeast University Road, Nanjing 211189, China;2. Railway Engineering Research Institute, China Academy of Railway Sciences Co. Ltd, Beijing 100081, China;1. School of Medical Science and Laboratory Medicine, Jiangsu University, Zhenjiang 212001, PR China;2. Center for Drug/Gene Delivery and Tissue Engineering, Jiangsu University, Zhenjiang 212001, PR China;3. Department of Pharmaceutics, School of Pharmacy, Jiangsu University, Zhenjiang 212001, PR China |
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| Abstract: | Use of Amelogenin locus typing as a gender marker incorporated in STR multiplexes is common practice in forensic genetics analysis. Among 5534 Polish male individuals tested using the SGMPlus kit, one was found to lack the amelogenin X-specific homologue (0.02%). The same result was obtained with other commercial kits which also amplify the amelogenin locus, namely ProfilerPlus and PowerPlex16. When alternative amelogenin primers external to but encompassing the initial amplicon were applied, an X homologue product was seen. Sequencing of the X homologue amelogenin allele revealed C to G mutation located at the most 3′ base of the commonly used amelogenin reverse primer. To our knowledge, this mutation and failure to amplify the X homologue of the amelogenin gene has not been reported for the European population. |
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