STR sequence analysis for characterizing normal, variant, and null alleles
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Tài liệu tham khảo
Butler, 2010
Butler, 2006, Genetics and genomics of core STR loci used in human identity testing, J. Forensic Sci., 51, 253, 10.1111/j.1556-4029.2006.00046.x
Furedi, 1999, Y-STR haplotyping in two Hungarian populations, Int. J. Legal Med., 113, 38, 10.1007/s004140050276
Klein, 2003, A very long ACTBP2 (SE33) allele, Int. J. Legal Med., 117, 235, 10.1007/s00414-003-0377-4
Dauber, 2008, Unusual FGA and D19S433 off-ladder alleles and other allelic variants at the STR loci D8S1132, vWA, D18S51 and ACTBP2 (SE33), Forensic Sci. Int. Genet. Suppl. Ser., 1, 109, 10.1016/j.fsigss.2007.10.067
Onofri, 2008, D16S539 microvariant or D2S1338 off-ladder allele? A case report about a range overlapping between two loci, Forensic Sci. Int. Genet. Suppl. Ser., 1, 123, 10.1016/j.fsigss.2007.10.029
Tamura, 2008, Sequence analysis of two de novo mutation alleles at the Y-STR locus, Sci. Int. Genet. Suppl. Ser., 1, 250, 10.1016/j.fsigss.2007.10.058
Dauber, 2009, Further allelic variation at the STR-loci ACTBP2 (SE33), D3S1358, D8S1132, D18S51 and D21S11, Forensic Sci. Int. Genet. Suppl. Ser., 2, 41, 10.1016/j.fsigss.2009.08.079
Morales-Valverde, 2009, Characterisation of 12 new alleles in the STR system D18S51, Forensic Sci. Int. Genet. Suppl. Ser., 2, 43, 10.1016/j.fsigss.2009.08.172
Egyed, 2000, Analysis of eight STR loci in two Hungarian populations, Forensic Sci. Int., 113, 25, 10.1016/S0379-0738(00)00191-2
Oberacher, 2008, Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry, Hum. Mutat., 29, 427, 10.1002/humu.20627
Gusmão, 1996, Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region, Int. J. Legal Med., 108, 313, 10.1007/BF02432126
Kline, 1998, Non-amplification of a vWA allele, J. Forensic Sci., 43, 250
Allen, 2000, Phenotypic differences at the HUMvWA locus amplified with different STR kits, J. Forensic Sci., 45, 1166, 10.1520/JFS14850J
Cotton, 2000, Validation of the AMPFlSTR SGM plus system for use in forensic casework, Forensic Sci. Int., 112, 151, 10.1016/S0379-0738(00)00182-1
Greenspoon, 2000, Validation of the PowerPlex 1.1 loci for use in human identification, J. Forensic Sci., 45, 677, 10.1520/JFS14747J
Alves, 2001, VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits, Int. J. Legal Med., 115, 97, 10.1007/s004140100215
Budowle, 2001, STR primer concordance study, Forensic Sci. Int., 124, 47, 10.1016/S0379-0738(01)00563-1
Budowle, 2001, Concordance study on population database samples using the PowerPlex 16 kit and AmpFlSTR Profiler Plus kit and AmpFlSTR COfiler kit, J. Forensic Sci., 46, 637, 10.1520/JFS15016J
Han, 2001, Non-amplification of an allele of the D8S1179 locus due to a point mutation, Int. J. Legal Med., 115, 45, 10.1007/s004140100213
Tomsey, 2001, Comparison of PowerPlex 16, PowerPlex1.1/2.1, and ABI AmpfISTR Profiler Plus/COfiler for forensic use, Croat. Med. J., 42, 239
Kashyap, 2002, Concordance study on 15 STR loci in three major populations of Himalayan State Sikkim, J. Forensic Sci., 47, 1163, 10.1520/JFS15547J
Nelson, 2002, Detection of a primer-binding site polymorphism for the STR locus D16S539 using the Powerplex 1.1 system and validation of a degenerate primer to correct for the polymorphism, J. Forensic Sci., 47, 345, 10.1520/JFS15255J
Grubwieser, 2003, New sensitive amplification primers for the STR locus D2S1338 for degraded casework DNA, Int. J. Legal Med., 117, 185, 10.1007/s00414-002-0359-y
Amorim, 2004, Genotyping inconsistencies and null alleles using AmpFlSTR Identifiler and PowerPlex 16 kits, Int. Congress Ser. (Progress in Forensic Genetics 10), 1261, 176, 10.1016/S0531-5131(03)01496-1
Clayton, 2004, Primer binding site mutations affecting the typing of STR loci contained within the AMPFlSTR SGM Plus kit, Forensic Sci. Int., 139, 255, 10.1016/j.forsciint.2003.10.004
Delamoye, 2004, False homozygosities at various loci revealed by discrepancies between commercial kits: implications for genetic databases, Forensic Sci. Int., 143, 47, 10.1016/j.forsciint.2004.02.001
Drabek, 2004, Concordance study between miniplex assays and a commercial STR typing kit, J. Forensic Sci., 49, 859, 10.1520/JFS2004032
Forrest, 2004, Two rare novel polymorphisms in the D8S1179 and D13S317 markers and a method to mitigate their impact on human identification, Croat. Med. J., 45, 457
Greenspoon, 2004, Validation and implementation of the PowerPlex 16 BIO System STR multiplex for forensic casework, J. Forensic Sci., 49, 71, 10.1520/JFS2003031
Hendrickson, 2004, Accurate STR allele designations at the FGA and vWA loci despite primer site polymorphisms, J. Forensic Sci., 49, 250, 10.1520/JFS2003192
Kuzniar, 2004, STR data for the PowerPlex 16 loci in a population from Central Poland, Forensic Sci. Int., 139, 261, 10.1016/j.forsciint.2003.11.011
Hill, 2007, Concordance study between the AmpFlSTR MiniFiler PCR amplification kit and conventional STR typing kits, J. Forensic Sci., 52, 870, 10.1111/j.1556-4029.2007.00491.x
Ricci, 2007, A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case, J. Forensic Sci., 52, 393, 10.1111/j.1556-4029.2006.00357.x
Dauber, 2008, Two examples of null alleles at the D19S433 locus due to the same 4bp deletion in the presumptive primer binding site of the AmpFlSTR Identifiler kit, Forensic Sci. Int. Genet. Suppl. Ser., 1, 107, 10.1016/j.fsigss.2007.10.079
Hill, 2008, Characterization of 26 miniSTR loci for improved analysis of degraded DNA samples, J. Forensic Sci., 53, 73, 10.1111/j.1556-4029.2008.00595.x
C.R. Hill, D.L. Duewer, M.C. Kline, C.J. Sprecher, R.S. McLaren, D.R. Rabbach, B.E. Krenke, M.G. Ensenberger, P.M. Fulmer, D.R. Storts, J.M. Butler. Concordance and population studies along with stutter and peak height ratio analysis for Powerplex ESX 17 and ESI 17 systems, Forensic Sci. Int. Genetic (2010), doi:10.1016/j.fsigen. 2010.30.014.
Marino, 1998, Sequencing using capillary electrophoresis of short tandem repeat alleles separated and purified by high performance liquid chromatography, Electrophoresis, 19, 108, 10.1002/elps.1150190119
Boutrand, 2001, Variations in primer sequences are the origin of allele drop-out at loci D13S317 and CD4, Int. J. Legal Med., 114, 295, 10.1007/s004140000183
Lazaruk, 2001, Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing, Forensic Sci. Int., 119, 1, 10.1016/S0379-0738(00)00388-1
Hering, 2002, Sequence variations in the primer binding regions of the highly polymorphic STR system SE33, Int. J. Legal Med., 116, 365, 10.1007/s00414-002-0306-y
Alves, 2003, Multiplex STR genotyping: comparison study, population data and new sequence information, Int. Congress Ser. (Progress in Forensic Genetics 9), 1239, 131, 10.1016/S0531-5131(02)00623-4
Bhoopat, 2003, Identification of DYS385 Allele variants by using shorter amplicons and northern Thai haplotype data, J. Forensic Sci., 48, 1108, 10.1520/JFS2002371
Leibelt, 2003, Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles, Forensic Sci. Int., 133, 220, 10.1016/S0379-0738(03)00035-5
Alves, 2004, Contribution for an African autosomic STR database (AmpFlSTR Identifiler and PowerPlex 16 System) and a report on genotyping variations, Forensic Sci. Int., 139, 201, 10.1016/j.forsciint.2003.11.002
Heinrich, 2004, Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region, Int. J. Legal Med., 118, 361, 10.1007/s00414-004-0473-0
Thangaraj, 2004, Mutation in the STR locus D21S11 of father causing allele mismatch in the child, J. Forensic Sci., 49, 99, 10.1520/JFS2002236
Turchi, 2004, Unusual association of three rare alleles and a mismatch in a case of paternity testing, J. Forensic Sci., 49, 260, 10.1520/JFS2003271
Grubwieser, 2005, Unusual variant alleles in commonly used short tandem repeat loci, Int. J. Legal Med., 119, 164, 10.1007/s00414-004-0508-6
Heinrich, 2005, Characterisation of variant alleles in the STR systems D2S1338, D3S1358 and D19S433, Int. J. Legal Med., 119, 310, 10.1007/s00414-005-0554-8
Hering, 2005, Identification of more sequence variations in the D8S1179 locus, Forensic Sci. Int., 149, 275, 10.1016/j.forsciint.2004.07.011
Becker, 2007, New alleles and mutational events at 14 STR loci from different German populations, Forensic Sci. Int. Genet., 1, 232, 10.1016/j.fsigen.2007.04.001
Glock, 2008, A DYS438 null allele observed in two generations of a large family, Forensic Sci. Int. Genet. Suppl. Ser., 1, 206, 10.1016/j.fsigss.2007.10.154
Lederer, 2008, Characterization of two unusual allele variants at the STR locus ACTBP2 (SE33), Forensic Sci. Med. Pathol., 4, 164, 10.1007/s12024-007-9021-9
Mizuno, 2008, A D19S433 primer binding site mutation and the frequency in Japanese of the silent allele it causes, J. Forensic Sci., 53, 1068, 10.1111/j.1556-4029.2008.00806.x
Zahra, 2008, The analysis of UAE populations using AmpFℓSTR® Y Filer™: identification of novel and null alleles, Forensic Sci. Int. Genet. Suppl. Ser., 1, 255, 10.1016/j.fsigss.2007.10.137
Mertens, 2009, Non-exclusion maternity case with two genetic incompatibilities, a mutation and a null allele, Forensic Sci. Int. Genet. Suppl. Ser., 2, 224, 10.1016/j.fsigss.2009.07.003
Divne, 2010, Forensic analysis of autosomal STR markers using Pyrosequencing, Forensic Sci. Int. Genet., 4, 122, 10.1016/j.fsigen.2009.07.004
Butler, 2008, New resources for the forensic genetics community available on the NIST STRBase website, Forensic Sci. Int. Genet. Suppl. Ser., 1, 97, 10.1016/j.fsigss.2007.10.035
Butler, 2003, Allele frequencies for 15 autosomal STR loci on U.S. Caucasian African American, and Hispanic populations, J. Forensic Sci., 48, 908, 10.1520/JFS2003045
Kline, 2002, Polymerase chain reaction amplification of DNA from aged blood stains: quantitative evaluation of the “suitability for purpose” of four filter papers as archival media, Anal. Chem., 74, 1863, 10.1021/ac015715e
Rozen, 2000, Primer3 on the WWW for general users and for biologist programmers, 365
Krenke, 2002, Validation of a 16-locus fluorescent multiplex system, J. Forensic Sci., 47, 773, 10.1520/JFS15445J