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Potential forensic application of closely linked autosomal STR haplotype in complex kinship testing
Institution:1. Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, PR China;2. Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China;1. Immunological Research, Universy of Cartagena, Cartagena, Colombia;2. Laboratorio GENES Ltda, Medellín, Colombia;3. Instituto de Biología, Universidad de Antioquia, Medellín, Colombia;4. Laboratorio de Genética Molecular, Cruz Roja Ecuatoriana, Quito, Ecuador;5. Universidad Pontificia Bolivariana, Medellín, Colombia;6. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal;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. Forensics Genetic Service, Central Delegation, National Institute of Legal Medicine and Forensic Sciences, I.P., Coimbra, Portugal;2. Cencifor, Forensic Science Centre, Portugal;3. National Institute of Legal Medicine and Forensic Sciences, I.P., Portugal;4. Department of Biology, University of Aveiro, Portugal;1. Flinders Centre for Nanoscale Science and Technology, Flinders University, Sturt Road, Bedford Park, Adelaide, South Australia, Australia;2. School of Biological Sciences, Flinders University, Sturt Road, Bedford Park, Adelaide, South Australia, Australia
Abstract:It has been noticed that the most commonly used commercial STR kits and mtDNA may not be able to solve some special kinship cases, such as alleged aunt, uncle, niece, nephew or half-siblings. Due to its unique hereditary pattern, the haplotype of genetic markers could be a solution of these questioned family relationships. In this study, we investigated the genetic features of an autosomal STR cluster by employing confirmed family samples. To evaluate the forensic practical value of autosomal STR haplotype, 5 closely linked STR loci, D1S2127-D1S2138-D1S3460-D1S1643-D1S518, which were arranged in about 2 cM region (from 186.29 cM to 188.02 cM; 1 cM represents 1% average recombination between two loci) on chromosome one, were selected to compose haplotype. Genotyping of 60 samples from 8 trios (father–mother–children), 8 duos (father or mother–children), and 4 three-generation pedigrees were performed using PAGE. Haplotypes were identified in the child by determining alleles for all 5 loci transmitted from each parent. Total 73 haplotypes were detected in all samples and 34 haplotypes were observed to be passed down as a whole and was corresponding with the inherited characteristics of haplotype. In all family members, 34 unrelated individuals contributed 65 haplotypes, of which 62 haplotypes appeared only once and the rest 3 haplotypes appeared twice. No recombination was observed in 4 three-generation pedigrees. In conclusion, the haplotype consisting of 5 closely linked autosomal STRs could pass down steadily as a whole. The family specificity of most haplotypes may provide a unique advantage in forensic complex kinship testing.
Keywords:Lineage STRs  Kinship testing  Family specific  Recombination
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