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Detection and analysis of null alleles of amelogenin in gender identification
Affiliation:1. Forensic Science Institute of Fujian Provincial Hospital, Fujian Provincial Key Laboratory of Cardiovascular Disease, Fuzhou, Fujian 350001, PR China;2. Provincial Clinicial College of Fujian Medical University, Fuzhou, Fujian 350001, PR China;3. Clinical Laboratory of Fujian Provincial Hospital, Fuzhou, Fujian 350001, PR China;1. Department of Forensic Biology, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, China;2. Department of Forensic Analytical Toxicology, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, China;3. The Center for Material Evidence, Tibet Autonomous Region Public Security, Lhasa 850000, Tibet Autonomous Region, China;1. School of Forensic Medicine, Southern Medical University, Guangzhou, 510515 Guangdong, China;2. School of Basic Medicine and Life Science, Hainan Medical University, Haikou, 571199 Hainan, China;3. Nanjing Zhenghong Judicial Identification Institute, Nanjing, 211800 Jiangsu, China;4. Beijing Municipal Public Security Bureau, 102600 Beijing, China;1. Dipartimento di Biologia e Biotecnologie “C. Darwin”, Sapienza Università di Roma, Rome, Italy;2. Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, Rome, Italy;1. Forensic Center, College of Medicine, Shaoxing University, Shaoxing 312000, China;2. Key Laboratory of Criminal Inspection of Sichuan Province, Sichuan Police College, Luzhou 646000, China;3. Department of Criminal Investigation, Public Security Bureau of Pei County, Xuzhou 221600, China;4. Ningbo Health Gene Technologies Co. Ltd., Ningbo 315040, China
Abstract:In this study, we located eight samples with null alleles of amelogenin out of 10,750 cases, and discussed the influence in gender identification and forensic personal identification. Amelogenin was detected and retested by several autosomal STR kits and sex chromosomal STR kits, and the causes were analyzed by chromosome karyotype analysis and Y chromosome microdeletion detection if necessary. Suspected AMEL-X loss was observed in five samples, but no abnormality was detected in the X-STR loci. AMEL-X was recovered when samples were retested by other detection systems designed with different primers. One sample had AMEL-X and X-STR loci loss, and the karyotype was chimeric 45,X0[70]/46,X,+mar[13].Two male samples lost AMEL-Y fragment, and both of them lost DYS522-DYS570-DYS576 loci, but no abnormalities were found in the STS loci of SRY and AZF regions. Therefore, when carrying out gender identification by using amelogenin, it is essential to focus on null alleles of amelogenin. In especially, deal with the samples collected from the individuals who had chromosomal hereditary disorders(e.g. Turner Syndrome and Oligospermia / Azoospermia). In order to achieve this, laboratories should have various techniques to verify the null alleles of amelogenin and ensure accurate genotyping. Accurate genotyping of amelogenin and DNA database establishment are vital for personal identification.
Keywords:Amelogenin  AMEL-X  AMEL-Y  Gender Identification  Null Alleles
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