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Erschienen in: Forensic Science, Medicine and Pathology 2/2011

01.06.2011 | Original Article

Genetic polymorphisms of 17 short tandem repeat loci on Y chromosome in central Croatian population

verfasst von: Branka Gršković, Gordan Mršić, Ozren Polašek, Andro Vrdoljak, Siniša Merkaš, Šimun Anđelinović

Erschienen in: Forensic Science, Medicine and Pathology | Ausgabe 2/2011

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Abstract

In forensic casework, Y-chromosome short tandem repeat (STR) haplotyping is used in human identification, paternity testing and sexual assault cases where Y-STRs provide a male-specific DNA profile. The aim of this study was to describe the genetic structure of Y chromosome in a central Croatian population. We carried out a statistical analysis of the data from previously performed genetic analyses collected during routine forensic work by the Forensic Science Centre “Ivan Vučetić”. A total of 220 unrelated healthy men from central Croatia were selected for the purpose of this study. Genomic DNA was extracted using a Chelex procedure from FTA® cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y chromosome haplotype reference database online analysis tool. A total of 212 haplotypes were identified, 204 of which were unique. Total haplotype diversity was 0.993. Locus diversity varied from 0.325 for DYS392 to 0.786 for DYS385. Discrimination capacity was 92.7%. Allele frequencies diversity was 0.615. Intermediate alleles 17.2, 18.2 and 19.2 were found at DYS458 locus. A comparison with published data for the European minimal haplotype set showed the closest relationship to the Croatian capital of Zagreb and Bosnia and Herzegovina with significant genetic distance from Slovenia and Austria. The central Croatian population is now well characterized in terms of Y-chromosome STRs, thus providing a solid basis for further forensic and genetic epidemiology studies.
Literatur
1.
Zurück zum Zitat Quintana-Murci L, Krausz C, McElreavey K. The human Y chromosome: function, evolution and disease. Forensic Sci Int. 2001;118(2–3):169–81.PubMedCrossRef Quintana-Murci L, Krausz C, McElreavey K. The human Y chromosome: function, evolution and disease. Forensic Sci Int. 2001;118(2–3):169–81.PubMedCrossRef
2.
Zurück zum Zitat Kayser M, Roewer L, Hedman M, et al. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet. 2000;66(5):1580–8.PubMedCrossRef Kayser M, Roewer L, Hedman M, et al. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet. 2000;66(5):1580–8.PubMedCrossRef
3.
Zurück zum Zitat Kayser M, Sajantila A. Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int. 2001;118(2–3):116–21.PubMedCrossRef Kayser M, Sajantila A. Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int. 2001;118(2–3):116–21.PubMedCrossRef
4.
Zurück zum Zitat Butler JM. Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev. 2003;15:91–111. Butler JM. Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev. 2003;15:91–111.
5.
Zurück zum Zitat Roewer L, Croucher PJ, Willuweit S, et al. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet. 2005;116:279–91.PubMedCrossRef Roewer L, Croucher PJ, Willuweit S, et al. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet. 2005;116:279–91.PubMedCrossRef
6.
Zurück zum Zitat Zhivotovsky LA, Underhill PA, Cinnioğlu C, et al. The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet. 2004;74:50–61.PubMedCrossRef Zhivotovsky LA, Underhill PA, Cinnioğlu C, et al. The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet. 2004;74:50–61.PubMedCrossRef
7.
Zurück zum Zitat Kwak KD, Jin HJ, Shin DJ, et al. Chromosomal STR haplotypes and their applications to forensic and population studies in East Asia. Int J Legal Med. 2005;119:195–201.PubMedCrossRef Kwak KD, Jin HJ, Shin DJ, et al. Chromosomal STR haplotypes and their applications to forensic and population studies in East Asia. Int J Legal Med. 2005;119:195–201.PubMedCrossRef
8.
Zurück zum Zitat Moore LT, McEvoy B, Cape E, Simms K, Bradley DG. A Y-chromosome signature of hegemony in Gaelic Ireland. Am J Hum Genet. 2006;78:334–8.PubMedCrossRef Moore LT, McEvoy B, Cape E, Simms K, Bradley DG. A Y-chromosome signature of hegemony in Gaelic Ireland. Am J Hum Genet. 2006;78:334–8.PubMedCrossRef
9.
Zurück zum Zitat Goedbloed M, Vermeulen M, Fang RN, et al. Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit. Int J Legal Med. 2009;123(6):471–82.PubMedCrossRef Goedbloed M, Vermeulen M, Fang RN, et al. Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit. Int J Legal Med. 2009;123(6):471–82.PubMedCrossRef
10.
Zurück zum Zitat Kayser M, Krawczak M, Excoffier L, et al. An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet. 2001;68(4):990–1018.PubMedCrossRef Kayser M, Krawczak M, Excoffier L, et al. An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet. 2001;68(4):990–1018.PubMedCrossRef
11.
Zurück zum Zitat Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 1999;10:506–13. Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 1999;10:506–13.
12.
Zurück zum Zitat Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software for population genetics data analysis. Evol Bioinformatics Online. 2005;1:47–50. Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software for population genetics data analysis. Evol Bioinformatics Online. 2005;1:47–50.
13.
Zurück zum Zitat Willuweit S, Roewer L. Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet. 2007;1(2):83–7.PubMedCrossRef Willuweit S, Roewer L. Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet. 2007;1(2):83–7.PubMedCrossRef
14.
Zurück zum Zitat Kayser M, Caglià A, Corach D, et al. Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med. 1997;110(3):125–33. 141–9.PubMedCrossRef Kayser M, Caglià A, Corach D, et al. Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med. 1997;110(3):125–33. 141–9.PubMedCrossRef
15.
Zurück zum Zitat Slatkin M. A measure of population subdivision based on microsatellite allele frequencies. Genetics. 1995;139(1):457–62.PubMed Slatkin M. A measure of population subdivision based on microsatellite allele frequencies. Genetics. 1995;139(1):457–62.PubMed
16.
Zurück zum Zitat Excoffier L, Smouse PE, Quattro JM. Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics. 1992;131(2):479–91.PubMed Excoffier L, Smouse PE, Quattro JM. Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics. 1992;131(2):479–91.PubMed
17.
Zurück zum Zitat Roewer L, Kayser M, Dieltjes P, et al. Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet. 1996;5(7):1029–33.PubMedCrossRef Roewer L, Kayser M, Dieltjes P, et al. Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet. 1996;5(7):1029–33.PubMedCrossRef
18.
Zurück zum Zitat Roewer L. Y chromosome STR typing in crime casework. Forensic Sci Med Pathol. 2009;5:77–84.PubMedCrossRef Roewer L. Y chromosome STR typing in crime casework. Forensic Sci Med Pathol. 2009;5:77–84.PubMedCrossRef
19.
Zurück zum Zitat Gusmão L, Butler JM, Carracedo A, et al. DNA commission of the international society of forensic genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int. 2006;157(2–3):187–97.PubMedCrossRef Gusmão L, Butler JM, Carracedo A, et al. DNA commission of the international society of forensic genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int. 2006;157(2–3):187–97.PubMedCrossRef
20.
Zurück zum Zitat Gršković B, Mršić G, Vrdoljak A, Merkaš S, Anđelinović Š. Population genetic analysis of haplotypes based on 17 short tandem repeat loci on Y chromosome in population sample from eastern Croatia. Croat Med J. 2010;51(3):202–8.PubMedCrossRef Gršković B, Mršić G, Vrdoljak A, Merkaš S, Anđelinović Š. Population genetic analysis of haplotypes based on 17 short tandem repeat loci on Y chromosome in population sample from eastern Croatia. Croat Med J. 2010;51(3):202–8.PubMedCrossRef
21.
Zurück zum Zitat Gršković B, Mršić G, Polašek O, Vrdoljak A, Merkaš S, Anđelinović Š. Population data for 17 short tandem repeat loci on Y chromosome in northern Croatia. Mol Biol Rep. 2010 (in press). Gršković B, Mršić G, Polašek O, Vrdoljak A, Merkaš S, Anđelinović Š. Population data for 17 short tandem repeat loci on Y chromosome in northern Croatia. Mol Biol Rep. 2010 (in press).
22.
Zurück zum Zitat Ljubković J, Stipisić A, Sutlović D, Definis-Gojanović M, Bucan K, Anđelinović Š. Y-chromosomal short tandem repeat haplotypes in southern Croatian male population defined by 17 loci. Croat Med J. 2008;49(2):201–6.PubMedCrossRef Ljubković J, Stipisić A, Sutlović D, Definis-Gojanović M, Bucan K, Anđelinović Š. Y-chromosomal short tandem repeat haplotypes in southern Croatian male population defined by 17 loci. Croat Med J. 2008;49(2):201–6.PubMedCrossRef
23.
Zurück zum Zitat Lovrečić L, Ristić S, Brajenović B, Kapović M, Peterlin B. Human Y-specific STR haplotypes in the Western Croatian population sample. Forensic Sci Int. 2005;149(2–3):257–61.PubMed Lovrečić L, Ristić S, Brajenović B, Kapović M, Peterlin B. Human Y-specific STR haplotypes in the Western Croatian population sample. Forensic Sci Int. 2005;149(2–3):257–61.PubMed
24.
Zurück zum Zitat Myres NM, Ritchie KH, Lin AA, Hughes RH, Woodward SR, Underhill PA. Y-chromosome short tandem repeat intermediate variant alleles DYS392.2, DYS449.2, and DYS385.2 delineate new phylogenetic substructure in human Y-chromosome haplogroup tree. Croat Med J. 2009;50(3):239–49.PubMedCrossRef Myres NM, Ritchie KH, Lin AA, Hughes RH, Woodward SR, Underhill PA. Y-chromosome short tandem repeat intermediate variant alleles DYS392.2, DYS449.2, and DYS385.2 delineate new phylogenetic substructure in human Y-chromosome haplogroup tree. Croat Med J. 2009;50(3):239–49.PubMedCrossRef
25.
Zurück zum Zitat Marjanovic D, Fornarino S, Montagna S, et al. The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups. Ann Hum Genet. 2005;69(Pt 6):757–63.PubMedCrossRef Marjanovic D, Fornarino S, Montagna S, et al. The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups. Ann Hum Genet. 2005;69(Pt 6):757–63.PubMedCrossRef
26.
Zurück zum Zitat Sterlinko H, Pajnic IZ, Balazic J, Komel R. Human Y-specific STR haplotypes in a Slovenian population sample. Forensic Sci Int. 2001;120(3):226–8.PubMedCrossRef Sterlinko H, Pajnic IZ, Balazic J, Komel R. Human Y-specific STR haplotypes in a Slovenian population sample. Forensic Sci Int. 2001;120(3):226–8.PubMedCrossRef
27.
Zurück zum Zitat Veselinovic IS, Zgonjanin DM, Maletin MP, et al. Allele frequencies and population data for 17 Y-chromosome STR loci in a Serbian population sample from Vojvodina province. Forensic Sci Int. 2008;176(2–3):e23–8.PubMedCrossRef Veselinovic IS, Zgonjanin DM, Maletin MP, et al. Allele frequencies and population data for 17 Y-chromosome STR loci in a Serbian population sample from Vojvodina province. Forensic Sci Int. 2008;176(2–3):e23–8.PubMedCrossRef
28.
Zurück zum Zitat Berger B, Lindinger A, Niederstatter H, Grubwieser P, Parson W. Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med. 2005;119:241–6.PubMedCrossRef Berger B, Lindinger A, Niederstatter H, Grubwieser P, Parson W. Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med. 2005;119:241–6.PubMedCrossRef
Metadaten
Titel
Genetic polymorphisms of 17 short tandem repeat loci on Y chromosome in central Croatian population
verfasst von
Branka Gršković
Gordan Mršić
Ozren Polašek
Andro Vrdoljak
Siniša Merkaš
Šimun Anđelinović
Publikationsdatum
01.06.2011
Verlag
Springer US
Erschienen in
Forensic Science, Medicine and Pathology / Ausgabe 2/2011
Print ISSN: 1547-769X
Elektronische ISSN: 1556-2891
DOI
https://doi.org/10.1007/s12024-010-9216-3

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