Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies |
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| Affiliation: | 1. Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark;2. IPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, Portugal;3. Faculty of Sciences of the University of Porto, Portugal;4. DNA Diagnostic Laboratory, State University of Rio de Janeiro, Brazil;1. Armed Forces DNA Identification Laboratory, Armed Forces Medical Examiner System, United States;2. American Registry of Pathology, United States;3. Flinders University, Australia;4. National Institute of Standards and Technology, United States;1. Laboratorio de Genética Molecular de Cruz Vital – Cruz Roja Ecuatoriana Quito, Ecuador;2. Laboratorio GENES Ltda, Medellin, Colombia;1. Department of Forensic and Legal Medicine, Faculty of Medicine Diponegoro University, Semarang, Central Java, Indonesia;2. DNA Laboratory Indonesian National Police, Jakarta, Indonesia;1. Department of Laboratory Science and Technology – Faculty of Health Science – American University of Science and Technology, Lebanon;2. School of Criminal Justice – Faculty of Law and Criminal Justice – University of Lausanne, Switzerland;1. DNAbiotec (Pty) Ltd, Pretoria, South Africa;2. ForPsych Consultants (Pty) Ltd, Perth, W.A., Australia;3. Forensic DNA Consultants (Pty) Ltd, Pretoria, South Africa;4. Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa |
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| Abstract: | Haploblocks are segments of the genome with little recombination that may be of interest in forensic and population genetics. Criteria to select autosomal haploblocks have been previously described, leading to the identification of candidate regions that, a priori, met the conditions to be used as forensic genetic markers. Still, the potential of X-chromosomal haploblocks remains unexplored.The present work aimed to provide basis for designing strategies for selection of X-haploblocks defined by single nucleotide polymorphisms (SNPs) using next generation sequencing approach. The potential application in population genetics and forensic studies was addressed. One of the conditions considered in the haploblock selection was the simultaneous inclusion of short tandem repeats (STRs) currently used in forensic casework to allow the distinction between SNP-defined haplotypes and increase the resolution for fine-scale studies. Given the size of the X chromosome (∼150 Mbps), only four haploblocks could be selected in order to guarantee their independence. |
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| Keywords: | X chromosome Haploblock Linkage disequilibrium |
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