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Published in: International Journal of Legal Medicine 3/2007

01-05-2007 | Original Article

Genetic diversity of 10 X chromosome STRs in northern Portugal

Authors: Rui Pereira, Iva Gomes, António Amorim, Leonor Gusmão

Published in: International Journal of Legal Medicine | Issue 3/2007

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Abstract

Genetic data of 10 X chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) were obtained in a sample of unrelated males born in the five northern Portuguese districts. In a global sample of 347 individuals, no shared haplotypes were found for this set of markers and single locus gene diversities were high, varying between 0.678 for DXS7423 and 0.921 for DXS8377. Linkage disequilibrium analysis did not reveal consistent evidence of association between the X-STRs used. Population comparisons of northern Portuguese districts (exact test of population differentiation; pairwise genetic distances) and analysis of molecular variance supported genetic homogeneity of this region and therefore a common genetic database was considered. In comparisons with other European data, the only population samples showing statistically significant differences to northern Portugal were Germany and Latvia. The present work demonstrates that these genetic markers are highly discriminating and therefore useful for human identification purposes and anthropological research.
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Literature
1.
go back to reference Asamura H, Sakai H, Kobayashi K, Ota M, Fukushima H (2006) MiniX-STR multiplex system population study in Japan and application to degraded DNA analysis. Int J Legal Med 120:174–181PubMedCrossRef Asamura H, Sakai H, Kobayashi K, Ota M, Fukushima H (2006) MiniX-STR multiplex system population study in Japan and application to degraded DNA analysis. Int J Legal Med 120:174–181PubMedCrossRef
2.
go back to reference Beleza S, Gusmão L, Lopes A et al (2006) Micro-phylogeographic and demographic history of Portuguese male lineages. Ann Hum Genet 70:181–194PubMedCrossRef Beleza S, Gusmão L, Lopes A et al (2006) Micro-phylogeographic and demographic history of Portuguese male lineages. Ann Hum Genet 70:181–194PubMedCrossRef
3.
go back to reference Bini C, Ceccardi S, Ferri G et al (2005) Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples. A collaborative study. Forensic Sci Int 153:231–236PubMedCrossRef Bini C, Ceccardi S, Ferri G et al (2005) Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples. A collaborative study. Forensic Sci Int 153:231–236PubMedCrossRef
4.
go back to reference Desmarais D, Zhong Y, Chakraborty R, Perreault C, Busque L (1998) Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J Forensic Sci 43:1046–1049PubMed Desmarais D, Zhong Y, Chakraborty R, Perreault C, Busque L (1998) Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J Forensic Sci 43:1046–1049PubMed
5.
go back to reference Edelmann J, Hering S, Michael M et al (2001) 16 X-chromosome STR loci frequency data from a German population. Forensic Sci Int 124:215–218CrossRef Edelmann J, Hering S, Michael M et al (2001) 16 X-chromosome STR loci frequency data from a German population. Forensic Sci Int 124:215–218CrossRef
6.
go back to reference Edelmann J, Deichsel D, Hering S, Plate I, Szibor R (2002) Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377. Forensic Sci Int 129:99–103PubMedCrossRef Edelmann J, Deichsel D, Hering S, Plate I, Szibor R (2002) Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377. Forensic Sci Int 129:99–103PubMedCrossRef
7.
go back to reference Edelmann J, Deichsel D, Plate I, Kayser M, Szibor R (2003) Validation of the X-chromosomal STR DXS6809. Int J Legal Med 117:241–244PubMedCrossRef Edelmann J, Deichsel D, Plate I, Kayser M, Szibor R (2003) Validation of the X-chromosomal STR DXS6809. Int J Legal Med 117:241–244PubMedCrossRef
8.
go back to reference Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 1:47–50PubMed Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 1:47–50PubMed
9.
go back to reference Gomes I, Prinz M, Pereira R et al (2006) Genetic analysis of three US population groups using a X-chromosomal STR decaplex. Int J Legal Med (in press) Gomes I, Prinz M, Pereira R et al (2006) Genetic analysis of three US population groups using a X-chromosomal STR decaplex. Int J Legal Med (in press)
10.
go back to reference Gusmão L, Sánchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A (2000) Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal. Int J Legal Med 114:109–113PubMedCrossRef Gusmão L, Sánchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A (2000) Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal. Int J Legal Med 114:109–113PubMedCrossRef
11.
go back to reference Gusmão L, Butler J, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200PubMedCrossRef Gusmão L, Butler J, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200PubMedCrossRef
12.
go back to reference Laan M, Wiebe V, Khusnutdinova E, Remm M, Pääbo S (2004) X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations. Eur J Hum Genet 13:452–462CrossRef Laan M, Wiebe V, Khusnutdinova E, Remm M, Pääbo S (2004) X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations. Eur J Hum Genet 13:452–462CrossRef
13.
go back to reference Lander ES, Linton LM, Birren B et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860–921PubMedCrossRef Lander ES, Linton LM, Birren B et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860–921PubMedCrossRef
14.
go back to reference Lareu MV, Phillips CP, Carracedo A, Lincoln PJ, Syndercombe Court D, Thomson JA (1994) Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations. Forensic Sci Int 66:41–52PubMedCrossRef Lareu MV, Phillips CP, Carracedo A, Lincoln PJ, Syndercombe Court D, Thomson JA (1994) Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations. Forensic Sci Int 66:41–52PubMedCrossRef
16.
go back to reference Peloso G, Grignani P, Previdere C (2004) Allele distribution of five X-chromosome STR loci in an Italian population sample. Int Congr Ser 1261:260–262CrossRef Peloso G, Grignani P, Previdere C (2004) Allele distribution of five X-chromosome STR loci in an Italian population sample. Int Congr Ser 1261:260–262CrossRef
17.
go back to reference Pepinski W, Skawronska M, Niemcunowicz-Janica A, Koc-Zorawska E, Janica J, Soltyszewski I (2005) Polymorphism of four X-chromosomal STRs in a Polish population sample. Forensic Sci Int 151:93–95PubMedCrossRef Pepinski W, Skawronska M, Niemcunowicz-Janica A, Koc-Zorawska E, Janica J, Soltyszewski I (2005) Polymorphism of four X-chromosomal STRs in a Polish population sample. Forensic Sci Int 151:93–95PubMedCrossRef
18.
go back to reference Pereira L, Prata MJ, Amorim A (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet 64:491–506PubMedCrossRef Pereira L, Prata MJ, Amorim A (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet 64:491–506PubMedCrossRef
19.
go back to reference Pérez-Lezaun A, Calafell F, Clarimón J et al (2000) Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and northern Africa. Int J Legal Med 113:208–214PubMedCrossRef Pérez-Lezaun A, Calafell F, Clarimón J et al (2000) Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and northern Africa. Int J Legal Med 113:208–214PubMedCrossRef
20.
go back to reference Poetsch M, Sabule A, Petersmann H, Volksone V, Lignitz E (2006) Population data of 10 X-chromosomal loci in Latvia. Forensic Sci Int 157:206–209PubMedCrossRef Poetsch M, Sabule A, Petersmann H, Volksone V, Lignitz E (2006) Population data of 10 X-chromosomal loci in Latvia. Forensic Sci Int 157:206–209PubMedCrossRef
21.
go back to reference Robino C, Giolitti A, Gino S, Torre C (2006) Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample. Int J Legal Med 120:315–318PubMedCrossRef Robino C, Giolitti A, Gino S, Torre C (2006) Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample. Int J Legal Med 120:315–318PubMedCrossRef
23.
go back to reference Slatkin M (1995) A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457–462PubMed Slatkin M (1995) A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457–462PubMed
24.
go back to reference Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D (2003a) Use of X-linked markers for forensic purposes. Int J Legal Med 117:67–74PubMed Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D (2003a) Use of X-linked markers for forensic purposes. Int J Legal Med 117:67–74PubMed
25.
go back to reference Szibor R, Plate I, Edelmann J, Hering S, Kuhlisch E, Michael M, Krause D (2003b) Chromosome X haplotyping in deficiency paternity testing principles and case report. Int Congr Ser 1239:815–820CrossRef Szibor R, Plate I, Edelmann J, Hering S, Kuhlisch E, Michael M, Krause D (2003b) Chromosome X haplotyping in deficiency paternity testing principles and case report. Int Congr Ser 1239:815–820CrossRef
26.
go back to reference Szibor R, Edelmann J, Zarrabeitia MT, Riancho JA (2003c) Sequence structure and population data of the X-linked markers DXS7423 and DXS8377—clarification of conflicting statements published by two working groups. Forensic Sci Int 134:72–73PubMedCrossRef Szibor R, Edelmann J, Zarrabeitia MT, Riancho JA (2003c) Sequence structure and population data of the X-linked markers DXS7423 and DXS8377—clarification of conflicting statements published by two working groups. Forensic Sci Int 134:72–73PubMedCrossRef
27.
go back to reference Szibor R, Hering S, Kuhlisch E, Plate I, Demberger S, Krawczak M, Edelmann J (2005) Haplotyping of STR cluster DXS6801–DXS6809–DXS6789 on Xq21 provides a powerful tool for kinship testing. Int J Legal Med 119:363–369PubMedCrossRef Szibor R, Hering S, Kuhlisch E, Plate I, Demberger S, Krawczak M, Edelmann J (2005) Haplotyping of STR cluster DXS6801–DXS6809–DXS6789 on Xq21 provides a powerful tool for kinship testing. Int J Legal Med 119:363–369PubMedCrossRef
28.
go back to reference Szibor R, Hering S, Edelmann J (2006) A new Web site compiling forensic chromosome X research is now online. Int J Legal Med 120:252–254PubMedCrossRef Szibor R, Hering S, Edelmann J (2006) A new Web site compiling forensic chromosome X research is now online. Int J Legal Med 120:252–254PubMedCrossRef
29.
go back to reference Turrina S, De Leo D (2003) Population data of three X-chromosomal STRs: DXS7132, DXS7133 and GATA172D05 in north Italy. J Forensic Sci 48:1428–1429PubMed Turrina S, De Leo D (2003) Population data of three X-chromosomal STRs: DXS7132, DXS7133 and GATA172D05 in north Italy. J Forensic Sci 48:1428–1429PubMed
30.
go back to reference Vauhkonen H, Vauhkonen M, Sipponen P, Sajantila A (2004) Correlation between the allelic distribution of STRs in a Finnish population and phenotypically different gastrointestinal tumours: a study using four X-chromosomal markers (DXS7423, DXS8377, ARA, DXS101). Ann Hum Genet 68:555–562PubMedCrossRef Vauhkonen H, Vauhkonen M, Sipponen P, Sajantila A (2004) Correlation between the allelic distribution of STRs in a Finnish population and phenotypically different gastrointestinal tumours: a study using four X-chromosomal markers (DXS7423, DXS8377, ARA, DXS101). Ann Hum Genet 68:555–562PubMedCrossRef
31.
go back to reference Wiegand P, Berger B, Edelmann J, Parson W (2003) Population genetic comparisons of three X-chromosomal STRs. Int J Legal Med 117:62–65PubMed Wiegand P, Berger B, Edelmann J, Parson W (2003) Population genetic comparisons of three X-chromosomal STRs. Int J Legal Med 117:62–65PubMed
32.
go back to reference Zalán A, Völgyi A, Jung M, Peterman O, Pamjav H (2006) Hungarian population data of four X-linked markers: DXS8378, DXS7132, HPRTB, and DXS7423. Int J Legal Med (DOI 10.1007/s00414-005-0051-0) Zalán A, Völgyi A, Jung M, Peterman O, Pamjav H (2006) Hungarian population data of four X-linked markers: DXS8378, DXS7132, HPRTB, and DXS7423. Int J Legal Med (DOI 10.​1007/​s00414-005-0051-0)
33.
go back to reference Zarrabeitia M, Alonso A, Martin J et al (2006) Study of six X-linked tetranucleotide microsatellites: population data from five Spanish regions. Int J Legal Med 120:147–150PubMedCrossRef Zarrabeitia M, Alonso A, Martin J et al (2006) Study of six X-linked tetranucleotide microsatellites: population data from five Spanish regions. Int J Legal Med 120:147–150PubMedCrossRef
34.
go back to reference Zarrabeitia MT, Alonso A, Zarrabeitia A, Castro A, Fernandez I, Pancorbo MM (2004) X-linked microsatellites in two northern Spain populations. Forensic Sci Int 145:57–59PubMedCrossRef Zarrabeitia MT, Alonso A, Zarrabeitia A, Castro A, Fernandez I, Pancorbo MM (2004) X-linked microsatellites in two northern Spain populations. Forensic Sci Int 145:57–59PubMedCrossRef
Metadata
Title
Genetic diversity of 10 X chromosome STRs in northern Portugal
Authors
Rui Pereira
Iva Gomes
António Amorim
Leonor Gusmão
Publication date
01-05-2007
Publisher
Springer-Verlag
Published in
International Journal of Legal Medicine / Issue 3/2007
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-006-0144-4

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