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Genetic polymorphisms of twelve X-STRs of the investigator Argus X-12 kit and additional six X-STR centromere region loci in an Egyptian population sample
Institution:1. Institute of Legal Medicine, University Hospital Hamburg-Eppendorf, Butenfeld 34, 22529 Hamburg, Germany;2. Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, University of Alexandria, Champollion Street, El-khartoum Square, Azarita Medical Campus, Alexandria, Egypt;3. Centre of Molecular Neurobiology, University Hospital Hamburg-Eppendorf, Falkenried 94, 20251 Hamburg, Germany;4. Institute of Legal Medicine, University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany;5. Institute of Legal Medicine, University of Leipzig, Johannisallee 28, 04103 Leipzig, Germany;1. Department of Forensic Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, 105-8461 Tokyo, Japan;2. Department of Legal Medicine, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan;1. Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden;2. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden;3. Department of Forensic Services, Oslo University Hospital, Oslo, Norway;4. National Institute of Standards and Technology, Special Programs Office, Gaithersburg, MD, USA;5. Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria;6. Forensic Science Program, The Pennsylvania State University, PA, USA;7. John Jay College of Criminal Justice, New York, USA;8. Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Germany;9. Norwegian University of Life Sciences, Oslo, Norway;10. State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil;1. University Department for Forensic Sciences, University of Split, Split, Croatia;2. Ru?er Bo?kovi? Institute, Zagreb, Croatia;3. Forensic Science Centre “Ivan Vu?eti?”, Zagreb, Croatia;4. Forensic Science Office, University of Zagreb, Zagreb, Croatia;5. Faculty of Veterinary Medicine, University of Zagreb, Zagreb, Croatia;1. Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany;2. Human Genetics Laboratory, University of Madeira, Funchal, Portugal;3. DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Brazil;4. IPATIMUP, Institute of Pathology and Molecular Immunology of the University of Porto, Porto, Portugal;5. Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal;1. Department of Forensic Genetics, West China School of Basic Sciences and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041 Sichuan, China;2. Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China;3. Center of Forensic Expertise, Affiliated Hospital of Zunyi Medical University, Zunyi, 563099 Guizhou, China;4. Department of Forensic Medicine, Zunyi Medical University, Zunyi, 563099 Guizhou, China
Abstract:Recently, many researchers have focused on analysis of different X-chromosomal STRs as they bear the potential to efficiently complement the analysis of autosomal and Y-chromosomal STRs in solving special complex kinship deficiency cases. In the current study we examined a sample of 250 unrelated Egyptian males with the Investigator Argus X-12 kit (Qiagen GmbH, Hilden, Germany) which detects 12 X-STR markers distributed over the entire X-chromosome as four closely linked clusters. Microvariant off ladder alleles as well as null alleles have been detected in some loci. Furthermore, discordant results were observed between the Investigator Argus X-12 and the Mentype® Argus X-8 kits (Biotype AG, Dresden, Germany). New primers were designed for loci DXS10101, DXS10146 and DXS10148 to correct the allele drop outs observed in these loci with the Investigator Argus X-12 kit. Additionally, DNA sequence analysis revealed the polymorphisms responsible for the allele drop outs. Furthermore, six additional X-STRs (DXS10161, DXS10159, DXS10162, DXS10163, DXS10164 and DXS10165) located in the centromere region at Xp11.21–Xq11.1 were examined in a single multiplex reaction. Allele and haplotype frequencies as well as different forensic statistical parameters of the 18 X-STR loci tested indicated that they are highly informative in different forensic applications in the Egyptian population. However, some modifications still need to be performed on the Investigator Argus X-12 kit before its use in forensic casework is validated.
Keywords:Egypt  Null alleles  Haplotype frequencies  Microvariant alleles  Sequencing
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