Abstract
Qualitative information on the sequence composition of the allele and locus structure of the X-STRs DXS8378, DXS9898, DXS6789, GATA31E08, and GATA172D05 was generated in this study. Sequence data were obtained from chimpanzees (Pan troglodytes) and diverse human population groups including Africans, Caucasians, Asians, African–Americans, and Hispanics. Results revealed DXS8378 as the most stable locus. On the other hand, DXS9898 and GATA172D05 showed unstable regions identified through chimpanzee–human sequence comparison. At DXS6789, intra-allelic variation was found in all human populations, i.e., alleles with same fragment sizes showed structural differences only detected by sequencing. At the GATA31E08 locus, a previously unreported variation between humans and chimpanzees was identified in an adjacent region upstream from the repeat. This resulted in the addition of two repeat units and the proposal of a new allele nomenclature at this locus. Also, the sequence analyses did not detect ethnic differences between the studied population samples that would justify the use of these markers to help identify ethnic origin in an anthropological context.
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References
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 120:174–181
Bär W, Brinkmann B, Budowle B et al (1997) DNA recommendations: further report of the DNA commission of the ISFH regarding the use of short tandem repeat systems. Int J Legal Med 110:175–176
Edelman J, Hering S, Michael M et al (2001) 16 X-chromosome STR loci frequency data from a German population. Forensic Sci Int 124:215–218
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 129:99–103
Fracasso T, Schürenkamp M, Brinkmann B, Hohoff C (2008) An X-STR meiosis study in Kurds and Germans: allele frequencies and mutation rates. Int J Legal Med. doi:10.1007/s00414-008-0231-9
Gill P, Brinkmann B, d'Aloja E et al (1997) Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature. Forensic Sci Int 87:185–192
Gomes I, Alves C, Maxzud K et al (2007) Analysis of 10 X-STRs in three African populations. Forensic Sci Int Genet 1:208–211
Gomes I, Prinz M, Pereira P et al (2007) Genetic analysis of 3 US population groups using an X-chromosomal STR decaplex. Int J Legal Med 121:198–203
González-Neira A, Elmoznino M, Lareu MV, Sánchez-Diz P, Gusmão L, Prinz M, Carracedo A (2001) Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies. Forensic Sci Int 122:19–26
Gusmão L, González-Neira A, Alves C, Lareu M, Costa S, Amorim A, Carracedo A (2002) Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Sci Int 126:129–136
Gusmão L, Butler JM, 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 120:191–200
Gusmão L, Sánchez-Diz P, Alves C et al (2008) A GEP-ISFG collaborative study on the optimization of an X-STR Decaplex: Data on 15 Iberian and Latin American populations. Int J Legal Med (in press)
Hering S, Szibor R (2000) Development of the X-linked tetrameric microsatellite marker DXS9898 for forensic purposes. J Forensic Sci 45:929–931
Hering S, Kuhlisch E, Szibor R (2001) Development of the X-linked tetrameric microsatellite marker HumDXS6789 for forensic purposes. Forensic Sci Int 119:42–46
Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133 141–149
Lazaruk K, Wallin J, Holt C, Nguyen T, Walsh PS (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
Lee HY, Park MJ, Jeong CK, Lee SY, Yoo JE, Chung U, Choi JH, Kim CY, Shin KJ (2004) Genetic characteristics and population study of 4 X-chromosomal STRs in Koreans: evidence for a null allele at DXS9898. Int J Legal Med 118:355–360
Pereira R, Gomes I, Amorim A, Gusmão L (2007) Genetic diversity of 10 X-chromosome STRs in northern Portugal. Int J Legal Med 121:192–197
Pico A, Castillo A, Vargas C, Amorim A, Gusmão L (2008) Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia. Int J Legal Med 122:347–351
Shin SH, Yu JS, Park SW, Min GS, Chung KW (2005) Genetic analysis of 18 X-linked short tandem repeat markers in Korean population. Forensic Sci Int 147:35–41
Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D (2003) Use of X-linked markers for forensic purposes. Int J Legal Med 117:67–74
Acknowledgements
We would like to thank Fr. Germano Serra and Magdalen Awor for the Uganda sampling. This work was partially supported by Fundação para a Ciência e a Tecnologia through grants SFRH/BD/21647/2005, SFRH/BD/30039/2006, and POCI/AFR/62242/2004 and by “Programa Operacional Ciência, e Inovação 2010,” as well as by the Fundação Luso-Americana para o Desenvolvimento (FLAD).
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Gomes, I., Prinz, M., Pereira, R. et al. X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees. Int J Legal Med 123, 143–149 (2009). https://doi.org/10.1007/s00414-008-0303-x
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DOI: https://doi.org/10.1007/s00414-008-0303-x