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Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - August 7, 2009 Category: Forensic Medicine Source Type: journals

Testing the performance of mtSNP minisequencing in forensic samplesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: There is a growing interest among forensic geneticists in developing efficient protocols for genotyping coding region mitochondrial DNA (mtDNA) SNPs (mtSNPs). Minisequencing is becoming a popular method for SNP genotyping, but it is still used by few forensic laboratories. In part, this is due to the lack of studies testing its efficiency and reproducibility when applied to real and complex forensic samples. Here we tested a minisequencing design that consists of 71 mtSNPs (in three multiplexes) that are diagnostic of known branches of the R0 phylogeny, in real forensic samples, including degraded bones and teeth...
Source: Forensic Science International: Genetics - May 20, 2009 Category: Forensic Medicine Authors: A. Mosquera-Miguel, V. Álvarez-Iglesias, M. Cerezo, M.V. Lareu, Á. Carracedo, A. Salas Tags: Short Communications Source Type: journals

Inferring ethnicity using 15 autosomal STR loci—Comparisons among populations of similar and distinctly different physical traitsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study shows that binary Bayesian classifier performed best for ethnic groups with distinctly different physical traits. This observation might be due to accidental differences caused by bottlenecks, genetic drift, etc. However, it could also be taken as an indication that STRs, commonly referred to as “junk” DNA, may have an effect on phenotype, a possibility that warrants further research. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 5, 2009 Category: Forensic Medicine Authors: Matthew Graydon, François Cholette, Lay-Keow Ng Tags: Short Communications Source Type: journals

Validation issues around DNA typing of low level DNAEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: A recent ruling in the Crown Court of Northern Ireland, R v. Hoey, [R v Sean Hoey. 2007, Crown Court of Northern Ireland] has raised questions about the validity of one variant of DNA analysis, often termed LCN. The ruling and subsequent discussion also raises questions about what constitutes validation of a technique.This paper examines what can be achieved in a laboratory based validation study against the Daubert standard and against guidance given in the UK. There is a significant discrepancy between what can be achieved and the Daubert standard but much less of a discrepancy against the UK guidance. Much of ...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: John Buckleton Tags: Short Communications Source Type: journals

A reference data base on STR allele frequencies in the Belarus population developed from paternity casesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: The study considers data on 15 STR-loci from paternity cases across Belarus districts from 2004 to the beginning of 2006 (set #1, 580 individuals) and since that to the beginning of 2007 (set #2, 530 individuals); the data majorly consist of ethnic Belarusians. No significant difference was found between the sets, as well as between the country districts in which the cases occurred. The allele frequencies obtained are very similar to those based on population survey at common loci. Therefore, a data base can be constructed of data from wide survey on paternity cases. Pooling the sets together provides a reference...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Lev A. Zhivotovsky, Vera M. Veremeichyk, Nikolay N. Kuzub, Ljubov’ A. Atramentova, Irina G. Udina, Nikolai A. Kartel, Iosif S. Tsybovsky Tags: Announcement of Population Data Source Type: journals

Genetic profile of 11 autosomal STR loci among the four major ethnic groups in Sri LankaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Allele frequencies and statistical parameters of forensic interest are presented for 11 autosomal microsatellites (CSF1PO, TPOX, TH01, D16S539, D13S317, D7S820, F13A, F13B, FESFPS, vWA and LPL) of four ethnic groups in Sri Lanka. A total of 513 unrelated individuals from Sinhalese, Sri Lankan Tamil, Indian Tamil and Sri Lankan Moor population groups were included. Sri Lanka is an island with a multi-ethnic population whose genetic composition has not been previously studied at the ethnic group level. All the 11 microsatellites were found to be highly polymorphic, with the combined power of exclusion being greater...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Ruwan J. Illeperuma, Samudi N. Mohotti, Thilini M. De Silva, Neil D. Fernandopulle, W.D. Ratnasooriya Tags: Announcement of Population Data Source Type: journals

Mitochondrial control region sequences from an Egyptian population sampleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Entire mitochondrial control region data was generated for 277 unrelated Egyptian individuals. High-throughput robotics, a redundant sequencing approach, and several quality control checks were implemented to generate a high-quality database. The data presented here will augment the limited Egyptian mtDNA reference data currently available for forensic comparisons. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Jessica L. Saunier, Jodi A. Irwin, Katharine M. Strouss, Hisham Ragab, Kimberly A. Sturk, Thomas J. Parsons Tags: Announcement of Population Data Source Type: journals

Analysis of 17 STR loci in different provinces of ArgentinaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: The allelic distribution of seventeen short tandem repeat (STR) loci, together with some parameters of forensic interest were estimated from a sample set of unrelated healthy individuals from six provinces in Argentina (Buenos Aires, Córdoba, Santa Fe, Salta, Entre Ríos and Chaco). All loci of the sample were in agreement with Hardy–Weinberg equilibrium, after Bonferroni correction. The combined discrimination power for these 17 STRs was 0.999999999999999999997, whereas the combined probability of exclusion was 0.99999993. Furthermore, this population was compared to other previously published samples from Ar...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Alicia Borosky, Laura Catelli, Carlos Vullo Tags: Announcement of Population Data Source Type: journals

Y-STR variation among ethnic groups from Ecuador: Mestizos, Kichwas, Afro-Ecuadorians and WaoranisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Twelve Y-chromosomal short tandem repeats (STRs) DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438 and DYS439 were studied in the three major ethnic groups from Ecuador: Mestizos, Native Amerindians (Kichwas, Quichuas) and Afro-Ecuadorians aiming to construct a representative database for this region in Latin America. All three populations exhibit high haplotypes diversities. Analysis of molecular variance (AMOVA) reveals significant differentiation between the Mestizos, the Kichwas and the Afro-Ecuadorians. The analysis of a hunter–gatherer group of Native Amerindians from the ...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Fabricio González-Andrade, Lutz Roewer, Sascha Willuweit, Dora Sánchez, Begoña Martínez-Jarreta Tags: Announcement of Population Data Source Type: journals

Population data on 15 autosomal STRs in a sample from ColombiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present population genetic data of 15 STRs (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, PENTA D, PENTA E, TH01, TPOX and VWA) obtained from a sample of 617 unrelated individuals from Colombia. Deviations from Hardy–Weinberg equilibrium were assessed and allele frequencies and parameters of forensic interest for each STR were calculated. The combined power of exclusion (PE) and the combined power of discrimination (PD) for the 15 tested STR loci were 0, 99999895 and more than 0, 9999999, respectively. The combined MP value was 1 in 1, 07888×10−17. Population comparisons between o...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Paula Sánchez-Diz, María Amparo Acosta, Dora Fonseca, Marcela Fernández, Yenny Gómez, Manuela Jay, Joseph Alape, María Victoria Lareu, Angel Carracedo, Carlos Martín Restrepo Tags: Announcement of Population Data Source Type: journals

Haplotype diversity of 17 Y-chromosomal STRs in three native Sarawak populations (Iban, Bidayuh and Melanau) in East MalaysiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study has revealed that the indigenous populations in Sarawak are distinctly different to each other, and to the three major ethnic groups in Malaysia (Malays, Chinese and Indians), with the Melanaus having a strikingly high degree of shared haplotypes within. There are rare unusual variants and microvariants that were not present in Malaysian Malay, Chinese or Indian groups. In addition, occurrences of DYS385 duplications which were only noticeably present in Chinese group previously was also observed in the Iban group whilst null alleles were detected at several Y-loci (namely DYS19, DYS392, DYS389II and DYS448) in ...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Yuet Meng Chang, Yuvaneswari Swaran, Yoong Keat Phoon, Kavin Sothirasan, Hang Thiew Sim, Kong Boon Lim, Daniel Kuehn Tags: Announcement of Population Data Source Type: journals

Genetic data of 15 autosomal STRs (Identifiler kit) of three Mexican Mestizo population samples from the States of Jalisco (West), Puebla (Center), and Yucatan (Southeast)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report autosomal STR data (Identifiler™ PCR amplification kit) of a total sample of 884 unrelated Mestizos from three different regions of Mexico. The population sample included 309, 313 and 262 individuals from the states of Jalisco (West), Puebla (Center) and Yucatan (Southeast), respectively. Allele distribution and forensic statistical parameters are described. Genotype distribution by locus and two-loci combination was in agreement with Hardy–Weinberg expectations for all 15 STRs. Pairwise comparisons including Mexican populations reported in the literature demonstrated a significant differentiation, principall...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: R. Rubi-Castellanos, M. Anaya-Palafox, E. Mena-Rojas, D. Bautista-España, J.F. Muñoz-Valle, H. Rangel-Villalobos Tags: Announcement of Population Data Source Type: journals

Genetic map of human X-linked microsatellites used in forensic practiceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DNA typing at polymorphic short tandem repeats (STRs) loci has become a standard and indispensable technique in medical and forensic genetic testing. Forensic genetic analysis of human X chromosome is currently based on a set 39 STRs (X-STRs) annotated markers , for which population data are available. Accurate information about genetic distances between these markers is unfortunately lacking. For the few known genetic distances most reports refer to the Marshfield human map and to the deCODE map . (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Filipe Brum Machado, Enrique Medina-Acosta Tags: Letter to the Editor Source Type: journals

Database crime to crime match rate calculationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Guidance exists on how to count matches between samples in a crime sample database but we are unable to locate a definition of how to estimate a match rate. We propose a method that does not proceed from the match counting definition but which has a strong logic. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: John Buckleton, Jo-Anne Bright, Simon J. Walsh Tags: Short Communication Source Type: journals

Validation of an STR peak area modelEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: In analyzing a DNA mixture sample, the measured peak areas of alleles of STR markers amplified using the polymerase chain-reaction (PCR) technique provide valuable information concerning the relative amounts of DNA originating from each contributor to the mixture. This information can be exploited for the purpose of trying to predict the genetic profiles of those contributors whose genetic profiles are not known. The task is non-trivial, in part due to the need to take into account the stochastic nature of peak area values. Various methods have been proposed suggesting ways in which this may be done. One recent s...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Robert G. Cowell Tags: Research Articles Source Type: journals

DNA from processed and unprocessed wood: Factors influencing the isolation successEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe success rates of DNA isolation from wood based on a simple, previously published extraction protocol. The protocol was used to isolate DNA from a total of 406 wood samples, mainly of the important tropical tree family Dipterocarpaceae. The reliability of the extraction method was confirmed by comparing fragment sizes and sequences after isolation of DNA from leaves and wood of the same trees. We observed the success of amplification of chloroplast DNA (cpDNA) fragments of different lengths by means of PCR, investigated key factors influencing PCR, and conducted inhibitor tests for a subset of the samples. The a...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Yanti Rachmayanti, Ludger Leinemann, Oliver Gailing, Reiner Finkeldey Tags: Research Articles Source Type: journals

Mutation rates at Y chromosome short tandem repeats in Texas populationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Father–son pairs from three populations (African American, Caucasian, and Hispanic) of Texas were typed for the 17 Y STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® YfilerTM kit. With 49,578 allele transfers, 102 mutations were detected. One three-step and four two-step mutations were found, and all others (95.1%) were one-step mutations. The number of gains (48) and losses (54) of repeats were nearly similar. The average mutation rate in the total population is 2.1×10−3 per locus (95% CI ...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Jianye Ge, Bruce Budowle, Xavier G. Aranda, John V. Planz, Arthur J. Eisenberg, Ranajit Chakraborty Tags: Research Articles Source Type: journals

X-STR diversity patterns in the Finnish and the Somali populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, X-STR allele frequencies and population diversity indices in two ethnic groups, the Finnish and the Somali, are reported. Several previously unreported alleles and features in the allelic distribution were observed, some of which were further investigated with a small set of family data. Most notably, several alleles showed significant frequency differences between sexes, yet no obvious explanation for this discrepancy was found. As a demonstration of X-chromosome analysis in practice, we describe two family reunion cases, where the X-STR data was successfully utilized. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: M. Hedman, J.U. Palo, A. Sajantila Tags: DNA in Forensics 2008 - Special Issue Section Source Type: journals

Polymorphisms of mtDNA control region in Tunisian and Moroccan populations: An enrichment of forensic mtDNA databases with Northern Africa dataEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Current forensic mitochondrial (mt)DNA databases are limited in representative population data of African origin. We investigated HVS-I/HVS-II sequences of 120 Tunisian and Moroccan healthy male donors applying stringent quality criteria to assure high quality of the data and phylogenetic alignment and notation of the sequences. Among 64 Tunisians, 56 different haplotypes were observed and the most common haplotype (16187T 16189C 16223T 16264T 16270T 16278T 16293G 16311C 73G 152C 182T 185T 195C 247A 263G 309.1C 315.1C; haplogroup (hg) L1b) was shared by four individuals. 56 Moroccans could be assigned to 52 diffe...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Chiara Turchi, Loredana Buscemi, Erika Giacchino, Valerio Onofri, Liane Fendt, Walther Parson, Adriano Tagliabracci Tags: DNA in Forensics 2008 - Special Issue Section Source Type: journals

Development of an antigen-based rapid diagnostic test for the identification of blowfly (Calliphoridae) species of forensic significanceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we examine the limitations of currently used sequence-based approaches to blowfly (Calliphoridae) identification and evaluate the utility of an immunological approach to discriminate between blowfly species of forensic importance. By investigating antigenic similarity and dissimilarity between the first instar larval stages of four forensically important blowfly species, we have been able to identify immunoreactive proteins of potential use in the development of species-specific immuno-diagnostic tests. Here we outline our protein-based approach to species determination, and describe how it may be adapted to ...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Laura McDonagh, Chris Thornton, James F. Wallman, Jamie R. Stevens Tags: DNA in Forensics 2008 - Special Issue Section Source Type: journals

DNA-based prediction of human externally visible characteristics in forensics: Motivations, scientific challenges, and ethical considerationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: There will always be criminal cases, where the evidence DNA sample will not match either a suspect's DNA profile, or any in a criminal DNA database. In the absence of DNA-based mass intelligence screenings, including familial searching (both of which may be restricted by legislation), there is only one option to potentially avoid or retrospectively solve “cold cases”: the DNA-based prediction of human externally visible characteristics of an unknown person based on the crime scene sample left behind. Predictive DNA markers are expected to be available for some group-specific appearance traits in the near futu...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Manfred Kayser, Peter M. Schneider Tags: DNA in Forensics 2008 - Special Issue Section Source Type: journals

Mini-midi-mito: Adapting the amplification and sequencing strategy of mtDNA to the degradation state of crime scene samplesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: The degradation state of some biological traces recovered from the crime scene requires the amplification of very short fragments to attain a useful mitochondrial (mt)DNA sequence. We have previously introduced two mini-multiplex assays that amplify 10 overlapping control region (CR) fragments in two separate multiplex PCRs, which brought successful CR consensus sequences from even highly degraded DNA extracts. This procedure requires a total of 20 sequencing reactions per sample, which is laborious and cost intensive. For only moderately degraded samples that we encounter more frequently with typical mtDNA casew...
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Authors: Cordula Berger, Walther Parson Tags: DNA in Forensics 2008 - Special Issue Section Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - May 4, 2009 Category: Forensic Medicine Source Type: journals

Allele frequencies and haplotypes for five Y-STRs (DYS441, DYS442, DYS443, DYS444, and DYS445) in Ovambo and Turks populations using multiplex PCR systemEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objective of this population study was to create a forensic database in Ovambo and Turk populations using a multiplex PCR system. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - April 22, 2009 Category: Forensic Medicine Authors: Junko Fujihara, Haruo Takeshita, Etsuko Tsubota, Reiko Iida Tags: Letter to the Editor Source Type: journals

Development of STR profiles from firearms and fired cartridge casesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study focused on obtaining STR profiles from fired cartridge cases using the AmpFℓSTR® MiniFiler™ kit, which is designed to amplify DNA from low level, inhibited, and degraded samples. Comparisons to other STR amplification kits were also conducted. In attempt to simulate casework, random individuals loaded cartridges into a firearm. DNA was recovered from the fired cartridge cases using the double swab technique and extracted using an automated large volume DNA IQ™ method. Initially, testing focused on known shedders handling cartridges for 30s prior to firing. A significantly greater number of alleles was obt...
Source: Forensic Science International: Genetics - April 7, 2009 Category: Forensic Medicine Authors: Katie M. Horsman-Hall, Yvette Orihuela, Stephanie L. Karczynski, Ann L. Davis, Jeffrey D. Ban, Susan A. Greenspoon Tags: Research Articles Source Type: journals

Investigation of the methylation status around parent-of-origin detectable SNPs in imprinted genesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Methylation of CpG dinucleotides was investigated in five regions by bisulphite treatment of gDNA, PCR and cloning/sequencing. The gDNA was prepared from peripheral blood, saliva, semen, nails and hair from the head. In gDNA from peripheral blood, three regions were investigated in 16, 23 and 24 individuals, respectively (). In gDNA from other sources, three or five regions were investigated in five individuals (). In many of the sequenced fragments, all the CpG dinucleotides were either methylated or not, which support the idea that the parental origin of an allele may be determined by the methylation status of ...
Source: Forensic Science International: Genetics - March 16, 2009 Category: Forensic Medicine Authors: Nori Nakayashiki, Masataka Takamiya, Kirito Shimamoto, Yasuhiro Aoki, Masaki Hashiyada Tags: Research Articles Source Type: journals

Estimating the probability of allelic drop-out of STR alleles in forensic geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present a statistical model for estimating the per locus and overall probability of allelic drop-out using the results of all STR loci in the case sample as reference. The methodology of logistic regression is appropriate for this analysis, and we demonstrate how to incorporate this in a forensic genetic framework. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - March 16, 2009 Category: Forensic Medicine Authors: Torben Tvedebrink, Poul Svante Eriksen, Helle Smidt Mogensen, Niels Morling Tags: Research Articles Source Type: journals

Tri-allelic SNP markers enable analysis of mixed and degraded DNA samplesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, tri-allelic SNP markers are suited for the analysis of degraded DNA and enable the detection of a second DNA source in a sample. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - March 9, 2009 Category: Forensic Medicine Authors: Antoinette A. Westen, Anuska S. Matai, Jeroen F.J. Laros, Hugo C. Meiland, Mandy Jasper, Wiljo J.F. de Leeuw, Peter de Knijff, Titia Sijen Tags: Research Articles Source Type: journals

A report of the 2002–2008 paternity testing workshops of the English speaking working group of the International Society for Forensic GeneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: The English Speaking Working Group (ESWG) of the International Society for Forensic Genetics (ISFG) offers an annual Paternity Testing Workshop open to all members of the group. Blood samples, a questionnaire and a paper challenge are sent to the participants. Here, we present the results of the 2002–2008 Paternity Testing Workshops with the objective to evaluate the uniformity of DNA-profiling and conclusions of the participating laboratories as well as to clarify tendencies in typing strategies and biostatistical evaluations of the laboratories. The numbers of participating laboratories increased from 46 in 2...
Source: Forensic Science International: Genetics - March 5, 2009 Category: Forensic Medicine Authors: Anni Rønfeldt Thomsen, Charlotte Hallenberg, Bo Thisted Simonsen, Rikke Breinhold Langkjær, Niels Morling Tags: Research Articles Source Type: journals

A rare mutation in the primer binding region of the Amelogenin X homologue geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Use of Amelogenin locus typing as a gender marker incorporated in STR multiplexes is common practice in forensic genetics analysis. Among 5534 Polish male individuals tested using the SGMPlus kit, one was found to lack the amelogenin X-specific homologue (0.02%). The same result was obtained with other commercial kits which also amplify the amelogenin locus, namely ProfilerPlus and PowerPlex16. When alternative amelogenin primers external to but encompassing the initial amplicon were applied, an X homologue product was seen. Sequencing of the X homologue amelogenin allele revealed C to G mutation located at the m...
Source: Forensic Science International: Genetics - February 24, 2009 Category: Forensic Medicine Authors: Agnieszka Maciejewska, Ryszard Pawłowski Tags: Case Report Source Type: journals

Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphismsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: We analyzed 67 short tandem repeat polymorphisms from the non-recombining part of the Y-chromosome (Y-STRs), including 49 rarely studied simple single-copy (ss)Y-STRs and 18 widely used Y-STRs, in 590 males from 51 populations belonging to 8 worldwide regions (HGDP-CEPH panel). Although autosomal DNA profiling provided no evidence for close relationship, we found 18 Y-STR haplotypes (defined by 67 Y-STRs) that were shared by two to five men in 13 worldwide populations, revealing high and widespread levels of cryptic male relatedness. Maximal (95.9%) haplotype resolution was achieved with the best 25 out of 67 Y-S...
Source: Forensic Science International: Genetics - February 24, 2009 Category: Forensic Medicine Authors: Mark Vermeulen, Andreas Wollstein, Kristiaan van der Gaag, Oscar Lao, Yali Xue, Qiuju Wang, Lutz Roewer, Hans Knoblauch, Chris Tyler-Smith, Peter de Knijff, Manfred Kayser Tags: Research Articles Source Type: journals

AnnouncementEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Source Type: journals

Genetic data from 28 STR loci for forensic individual identification and parentage analyses in 6 bird of prey speciesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Twenty-eight STR loci were screened in wild populations of six bird of prey species providing allele frequencies and population genetic parameters necessary for the application of STRs in wildlife forensic genetic casework. Individual STR loci were validated according to forensic recommendations in specimens of golden eagle (Aquila chrysaetos), goshawk (Accipiter gentilis), merlin (Falco columbarius), peregrine falcon (Falco peregrinus), gyr falcon (Falco rusticolus) and saker falcon (Falco cherrug). Deviations from Hardy–Weinberg expectations and linkage disequilibrium between locus pairs were examined. The av...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Nick Dawnay, Rob Ogden, Jon H. Wetton, Roger S. Thorpe, Ross McEwing Tags: Announcement of Population Data Source Type: journals

The genetic male component of two South-Western Colombian populationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: In the recent history of Colombia, two factors have contributed to change the population structure, the Spanish conquest and the slave trading promoted principally by Portugal, England and Spain. As a consequence the native population of Colombia has been reduced and mixed with the European and African arriving groups.To assess the male ancestry of the Cauca population, we have examined the frequency of the major Y-chromosome lineages by typing 30 Y-SNPs in two populations from this region: 105 Afro-Colombian individuals and 110 Caucasian-Mestizo individuals. Among the 33 haplogroups defined with the SNPs analyse...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: María Amparo Acosta, Alejandro Blanco-Verea, María Victoria Lareu, María Brion, Angel Carracedo Tags: Announcement of Population Data Source Type: journals

Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kitEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Karamoja is a region located in the northeast edge of Uganda where it borders Kenya and Sudan. The majority of inhabitants of this region belong to Karimojong ethnic groups. In this work, we present allele frequencies for 15 STRs included in the AmpF/STR Identifiler kit (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPO and VWA) in 218 unrelated individuals from Karamoja region. Observed genotype distributions for each locus do not show deviations from Hardy–Weinberg equilibrium expectations. When comparing allele frequencies, for each locus, with other...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Verónica Gomes, Paula Sánchez-Diz, Cíntia Alves, Iva Gomes, António Amorim, Ángel Carracedo, Leonor Gusmão Tags: Announcement of Population Data Source Type: journals

Population genetics and mutational events at 6 Y-STRs in Korean populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Haplotype frequencies for 6 Y-STRs (DYS522, DYS533, DYS549, DYS570, DYS576 and DYS643) were determined in 539 unrelated Korean males. A total of 375 haplotypes were observed with the overall haplotype diversity of 0.9967. In DYS570, we found new point-3 microvariant allele series, i.e., 18.3, 19.3 and 20.3. DNA sequence analysis showed that the full repeat sequences were [TTTC]nttc[TTTC]5. Duplicated DYS643 allele was found and discussed on its forensic impact on the Y-STR interpretation of male–male mixtures. In 140 confirmed father/son pairs, one mutation was found in DYS576 with the overall mutation rate of ...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Soon Hee Kim, Nam Ye Kim, Kyung Sook Kim, Jong Jin Kim, Jong Tae Park, Ki Wha Chung, Myun Soo Han, Won Kim Tags: Announcement of Population Data Source Type: journals

Haplotypes of six miniY-STR loci in the Han population from Sichuan province and the Zhuang population in Guangxi Zhuang autonomous regionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Human Y-chromosomal short tandem repeat (miniY-STR) with short amplicon lengths is useful in forensic applications, especially in the analysis of degraded DNA samples. The present study aims to investigate the population database of six miniY-STR (DYS570, DYS556, DYS576, DYS522, DYS508, DYS540). 307 blood samples were taken from the Han population, and 253 samples were taken from the Zhuang population. The amplification product lengths detected ranged from 95 to 170bp. A total of 395 haplotypes, 303 of them unique, were found. The haplotype diversity of the Han was 0.9980 and of the Zhuang 0.9965, indicating a hi...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Danyan Zhang, Danmei Zhang, Wei Wu, Haibo Luo, Yi Ye, Yue Feng, Yiping Hou Tags: Announcement of Population Data Source Type: journals

Haplotype diversity of 22 Y-chromosomal STRs in a southeast China population sample (Chaoshan area)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, 22 Y-specific STR loci (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS461, DYS481, DYS504, DYS505, DYS508, DYS533, DYS576, DYS588, DYS607, DYS634, and DYS643) were analyzed in 216 unrelated male individuals from southeast China (Chaoshan area) by three multiplex PCR systems. The haplotype diversity using the classical set of Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, and DYS385; PowerPlexY Systems) was 0.9908. For the same population sample, the haplotype diversity using the new sets of 11 novel Y-STRs (DYS461, DYS481, DYS504, DY...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Meisen Shi, Rufeng Bai, Xiaojun Yu, Junyao Lv, Bo Hu Tags: Announcement of Population Data Source Type: journals

Genetic variation of 15 autosomal STR loci in Upper (Southern) EgyptiansEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: A sample of 265 unrelated individuals inhabiting five governorates in Upper (south) Egypt was collected with informed consent. The samples were amplified using the AmpFℓSTR®Identifiler™PCR Amplification Kit (containing 15 loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA), and genotyped subsequent to capillary electrophoresis. Statistical analysis of the generated data indicated neither departure from expectation of Hardy–Weinberg Equilibrium (HWE) in most of the tested loci nor dependence of alleles between loci. All tested loci wer...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Ghada A. Omran, Guy N. Rutty, Mark A. Jobling Tags: Announcement of Population Data Source Type: journals

15 STR loci frequencies with mutation rates in the population from Rio Grande do Sul, Southern BrazilEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Allele frequencies for 15 short tandem repeats (STR) loci were obtained from a sample of 2038 individuals undergoing paternity testing. The population is from Rio Grande do Sul, Brazil. The loci are the most commonly used in forensic and paternity testing, being analysed by the AmpFlSTR® Identifiler (Applied Biosystems) commercial kit. The most polymorphic locus was D2S1338. Mutation rates were ascertained from this population sample. All the loci analysed reached the Hardy–Weinberg equilibrium. The results of genetic distance are consistent with the European-derived origins of Rio Grande do Sul population. (S...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Fernanda Goulart Lanes Chula, Rodrigo Rodenbusch, Simone Schumacher, Tarciana Grandi, Candice Tosi Michelon, André Zoratto Gastaldo, Cíntia Costi, Bianca Carvalho, Cláudia Maria Dornelles da Silva Tags: Announcement of Population Data Source Type: journals

Slow and fast evolving markers typing in Modena males (North Italy)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: One hundred thirty male individuals, strictly selected for their geographical origin and for typical regional surnames were submitted to the analysis. 17 STRs (short tandem repeats) loci and 19 SNPs binary markers (single nucleotide polymorphisms) of male-specific region of the Y chromosome (MSY) were typed to well characterize the selected population of Modena province. The availability of joint distribution of MSY haplotypes and haplogroup frequencies is becoming an important tool for both human evolutionary studies and forensic investigation, but large databases of complete Y-lineages are needed for a better u...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Gianmarco Ferri, Milena Alù, Beatrice Corradini, Erjon Radheshi, Giovanni Beduschi Tags: Announcement of Population Data Source Type: journals

Allele frequencies of fifteen STRs in a representative sample of the Italian populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Fifteen autosomal short tandem repeat (STR) markers (D3S1358, HUMTH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, HUMvWA, D8S1179, HUMTPOX and FGA) were analyzed in more than 400 unrelated individuals from nine different areas of Italy. After Bonferroni correction, no evidence of population structure was identified, either by considering each population as independent or by combining populations according to their geographic origin (North, Central and South of Italy). Forensic indexes were estimated considering all samples together. Combined power of discrimination (PD) and combin...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: F. Brisighelli, C. Capelli, I. Boschi, P. Garagnani, M.V. Lareu, V.L. Pascali, A. Carracedo Tags: Announcement of Population Data Source Type: journals

Hungarian population data for 11 Y-STR and 49 Y-SNP markersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: 49 Y-chromosomal single nucleotide polymorphisms (SNPs) with TaqMan assay and 11 Y-chromosomal STR loci were tested in 215 independent Hungarian male samples. Genetic distances to 23 other populations were calculated based on haplogroup frequencies with AMOVA implemented in Arlequin2.0. Based on distances phylogenetic tree was constructed with Neighbor-joining method using Phylip 3.66. Haplotype and haplogroup diversity values were calculated. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Antónia Völgyi, Andrea Zalán, Enikő Szvetnik, Horolma Pamjav Tags: Announcement of Population Data Source Type: journals

STR data for the AmpFlSTR Identifiler from Dobruja region (SE Romania)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Allele frequencies for 15 STR loci included in AmpFlSTR Identifiler kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were determined in a sample of 569 unrelated individuals living in the region of Dobruja (SE Romania). No deviations from Hardy–Weinberg equilibrium were observed. Genetic parameters of forensic interest were calculated and comparison with geographically nearby populations was performed. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Florin Stanciu, Oana Raluca Popescu, Ionel Marius Stoian Tags: Letters to the Editor Source Type: journals

Interpretation of DNA Mixtures—Australian and New Zealand consensus on principlesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In 2006, the DNA Commission of the International Society of Forensic Genetics published their recommendations on the interpretation of DNA Mixtures . The Technical UK working group on mixture interpretation published their considerations of the former paper to place them in the context of those jurisdictions. These papers were followed by a further publication which clarified some points in the original publication . (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Peta Stringer, John W. Scheffer, Pam Scott, Joannah Lee, Robert Goetz, Vanessa Ientile, Carmen Eckhoff, Gavin Turbett, Des Carroll, SallyAnn Harbison Tags: Letters to the Editor Source Type: journals

A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosomeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: A parentage case is described that revealed a potentially erroneous exclusion from paternity in three systems, two on chromosome 21 and one on chromosome Y. Follow-up tests, especially of chromosome 21, were subsequently performed. Actually, the child's chromosome 21 showed alleles of maternal but not of paternal origin being consistent with a maternal uniparental disomy of chromosome 21. The third genetic incompatibility was observed at the Y chromosome and attributed to a usual one-step de novo mutation. This case is emphasizing the (generally adopted) requirement that an exclusion from paternity must not be ba...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Audrey Mansuet-Lupo, Jurgen Henke, Lotte Henke, Cornelia Blank, Anette Ernsting, Peter Kozlowski, Philippe Rouger, Veronique Van Huffel Tags: Case Reports Source Type: journals

Two fathers for the same child: A deficient paternity case of false inclusion with autosomic STRsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present a case of deficient paternity with two presumptive fathers analyzed with 19 autosomic short tandem repeats (STRs) and resolved by means of the study of 12 Y-chromosome STRs. Fifteen autosomic STRs consensued from the commercial kit PowerPlex-16® (Promega) were analyzed, and a combined paternity index (PIcom) of 13,811.215 and a probability of paternity (W) of 99.9999928% were obtained for presumptive father 1 and a PIcom of 35,332.241 with a W of 99.9999971% for presumptive father 2. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Fabricio González-Andrade, Dora Sánchez, Gustavo Penacino, Begoña Martínez Jarreta Tags: Case Reports Source Type: journals

Maximizing DNA profiling success from sub-optimal quantities of DNA: A staged approachEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Obtaining genetic profiles from samples containing minimal amounts of DNA can be difficult. In forensic science, the vast majority of genetic profiles are generated using commercial kits that have been optimized for the amplification of a specific range of DNA concentrations. DNA extracted from many forensic samples falls below the kit manufacturers’ specified concentrations either because there is not enough total DNA in the extract or the extract is so dilute that not enough volume of the extract can be added to the PCR. In order to develop a method to maximize SGM Plus® and Identifiler® profiling success f...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Amy D. Roeder, Paul Elsmore, Matt Greenhalgh, Andrew McDonald Tags: Research Articles Source Type: journals

Simplified buccal DNA extraction with FTA® Elute CardsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we sought to test if FTA® Elute Cards are suitable for buccal DNA extraction. Furthermore, several time and temperature conditions were analyzed in order to determine the best concentration/time ratio. Twenty-five different conditions were tested in quadruplicate and extracted DNA was quantified by real-time PCR. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Eldamária de Vargas Wolfgramm, Fernanda Magri de Carvalho, Vitor Rezende da Costa Aguiar, Mariana Penha De Nadai Sartori, Gabriela C.R. Hirschfeld-Campolongo, Weslley M. Tsutsumida, Iúri Drumond Louro Tags: Research Articles Source Type: journals

Y chromosomal STR analysis using Pyrosequencing technologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we evaluated if Pyrosequencing can be used as an alternative method for determining Y-STR variants. In total 70 unrelated Swedish males were typed for the Y chromosomal markers (DYS19, DYS389 I-II, DYS390, DYS391, DYS392, DYS393 and DYS438) using Pyrosequencing. Using the 8 markers, 57 unique haplotypes were observed with a discrimination capacity of 0.81. At four loci, the Pyrosequencing analysis revealed sequence variants. The sequence variants were found in the DYS389 II, DYS390, DYS391, and DYS393 loci in frequencies between 1.43% and 14.3%. Pyrosequencing has here been shown to be a useful tool for typin...
Source: Forensic Science International: Genetics - February 12, 2009 Category: Forensic Medicine Authors: Hanna Edlund, Marie Allen Tags: Research Articles Source Type: journals