Molecular Biology Reports

, Volume 41, Issue 4, pp 2559–2569 | Cite as

X-Chromosome STR markers data in a Cabo Verde immigrant population of Lisboa

  • Heloísa Afonso CostaEmail author
  • Paulo Morais
  • Cláudia Vieira da Silva
  • Sara Matos
  • Rodolfo Marques Santos
  • Rosa Espinheira
  • Jorge Costa Santos
  • António Amorim


Population genetic data of 12 X chromosomal short tandem repeats markers (DXS10074, DXS10079, DXS10101, DXS10103, DXS10134, DXS10135, DXS10146, DXS10148, DXS7132, DXS7423, DXS8378 and HPRTB) were analysed in 54 females and 95 males of an immigrant population from Cabo Verde living in Lisboa. The obtained results for forensic statistical parameters such as observed heterozigosity, polymorphism information content, power of discrimination and mean exclusion chance, based on single allele frequencies, reveal that this multiplex system is highly informative and can represent an important tool for genetic identification purposes in the immigrant population of Cabo Verde. Since the studied short tandem repeats genetic markers are distributed on four linkage groups, that can provide independent genotype information, we studied those groups as haploytes. The forensic efficiency parameters for the linked groups were all higher than 0.97, with linkage group I being the most polymorphic and linkage group III the less informative.


X-Chromosome STR markers Genetic population Forensic genetics Cabo Verde 


  1. 1.
    Pereira R, Gomes I, Amorim A, Gusmão L (2007) Genetic diversity of 10 X chromosome STRs in northern Portugal. Int J Legal Med 121:192–197PubMedCrossRefGoogle Scholar
  2. 2.
    Schaffner SF (2004) The X chromosome in population genetics. Nat Rev Genet 5:43–51. doi: 10.1038/nrg1247 PubMedCrossRefGoogle Scholar
  3. 3.
    Pinto N, Silva PV, Amorim A (2012) A general method to assess the utility of the X-chromosomal markers in Kinship testing. Forensic Sci Int Genet 6:198–207PubMedCrossRefGoogle Scholar
  4. 4.
    Pinto N, Gusmão L, Amorim A (2011) X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial. Forensic Sci Int Genet 5:27–32PubMedCrossRefGoogle Scholar
  5. 5.
    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 117:67–74PubMedGoogle Scholar
  6. 6.
    Szibor R (2007) X-chromosomal markers: past, present and future. Forensic Sci Int Genet 1:93–99PubMedCrossRefGoogle Scholar
  7. 7.
    Szibor R (2006) A new Web site compiling forensic chromosome X research is now online. Int J Legal Med 120:252–254PubMedCrossRefGoogle Scholar
  8. 8.
    Gusmão L, Sánchez-Diz P, Alves C, Gomes I, Zarrabeitia MT et al (2009) 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 123(3):227–234PubMedCrossRefGoogle Scholar
  9. 9.
    Samejima M, Nakamura Y, Nambiar P, Minaguchi K (2012) Genetic study of 12 X-STR in Malay population living in and around Kuala Lumpur using investigator Argus X-12 kit. Int J Legal Med 126:677–683PubMedCrossRefGoogle Scholar
  10. 10.
    Nishi T, Kurosu A, Sugano Y, Kaminiwa J, Sekine Y, Yano S, Honda K (2013) Application of a novel multiplex polymerase chain reaction system for 12 X-chromosomal short tandem repeats to a Japanese population study. Leg Med 15:43–46CrossRefGoogle Scholar
  11. 11.
    Cainé L, Costa S, Pinheiro MF (2013) Population data of 12 X-STR loci in a North of Portugal sample. Int J Legal Med 127:63–64PubMedCrossRefGoogle Scholar
  12. 12.
    Gomes I, Amorim A, Pereira V, Carracedo A, Gusmão L (2009) Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau. Forensic Sci Int Genet Suppl Ser 2:402–404CrossRefGoogle Scholar
  13. 13.
    Pereira V, Gusmão L, Valente C, Pereira R, Carneiro J, Gomes I, Morling N, Amorim A, João Prata M (2012) Refining the genetic portrait of Portuguese Roma through X-chromosomal markers. Am J Phys Anthropol 148:389–394PubMedCrossRefGoogle Scholar
  14. 14.
    Amorim A, Marques-Santos R, Vieira-Silva C, Afonso-Costa H, Espinheira R, Costa-Santos J (2012) Genetic portrait of Brazilian immigrant population living in Lisboa. Forensic Sci Int Genet 6:e121–e124PubMedCrossRefGoogle Scholar
  15. 15.
    Amorim A, Marques-Santos R, Vieira-Silva C, Afonso-Costa H, Espinheira R, Ferreira-Gomes P, Costa-Santos J (2012) Genetic portrait of a native population of Cabo Verde living in Lisboa. Forensic Sci Int Genet 6:e166–e169PubMedCrossRefGoogle Scholar
  16. 16.
    Marques dos Santos R, Vieira da Silva C, Afonso Costa H, Gomes PF, Sanches S, Espinheira R, Costa Santos J, Amorim A (2012) Genetic portrait of an immigrant population from Angola living in Lisboa. Forensic Sci Int Genet 6:e170–e173PubMedCrossRefGoogle Scholar
  17. 17.
    Nei M (1974) Roychoudhury AK, Sampling variances of heterozigosity and genetic distance. Genetics 76:379–390PubMedCentralPubMedGoogle Scholar
  18. 18.
    Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331PubMedCentralPubMedGoogle Scholar
  19. 19.
    Desmarais D, Zhong Y, Chakraborty R, Perreault C, Busque L (1980) Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J Forensic Sci 43:1046–1049Google Scholar
  20. 20.
    Edelmann J, Lutz-Bonengel S, Naue J, Hering S (2012) X-chromosomal haplotype frequencies of four linkage groups using the investigator Argus X-12 kit. Forensic Sci Int Genet 6(1):e24–e34PubMedCrossRefGoogle Scholar
  21. 21.
    Nothnagel M, Szibor R, Vollrath O, Augustin C, Edelmann J, Geppert M, Alves C et al (2012) Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome. Forensic Sci Int Genet 6(6):778–784PubMedCrossRefGoogle Scholar
  22. 22.
    Walsh PS, Metzger DA, Higuchi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 10(4):506–513PubMedGoogle Scholar
  23. 23.
    Hundertmark T, Hering S, Edelmann J, Augustin C, Plate I, Szibor R (2008) The STR cluster DXS10148-DXS8378-DXS10135 provides a powerful tool for X-chromosomal haplotyping at Xq22. Int J Legal Med 122:489–492PubMedCrossRefGoogle Scholar
  24. 24.
    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 129:99–103PubMedCrossRefGoogle Scholar
  25. 25.
    Hering S, Augustin C, Edelmann J, Heidel M, Dressler J, Rodig H, Kuhlisch E, Szibor R (2006) DXS10079, DXS10074 and DXS10075 are STRs located within a 280-kb region of Xq12 and provide stable haplotypes useful for complex kinship cases. Int J Legal Med 120:337–345PubMedCrossRefGoogle Scholar
  26. 26.
    Rodig H, Kloep F, Weissbach L, Augustin C, Edelmann J, Hering S, Szibor R, Götz F, Brabetz W (2010) Evaluation of seven X-chromosomal short tandem repeat loci located within the Xq26 region. Forensic Sci Int Genet 4:194–199PubMedCrossRefGoogle Scholar
  27. 27.
    Edelmann J, Hering S, Augustin C, Szibor R (2008) Characterisation of the STR markers DXS10146, DXS10134 and DXS10147 located within a 79.1 kb region at Xq28. Forensic Sci Int Genet 2:41–46PubMedCrossRefGoogle Scholar
  28. 28.
    Machado FB, Medina-Acosta E (2009) Genetic map of human X-linked microsatellites used in forensic practice. Forensic Sci Int Genetics 3(3):202–204. doi: 10.1016/j.fsigen.2008.10.006 CrossRefGoogle Scholar
  29. 29.
    Excoffier LGL, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50PubMedCentralGoogle Scholar
  30. 30.
    Szibor R, Hering S, Edelmann J (2006) A new Web site compiling forensic chromosome X research is now online. Int J Legal Med 120(4):252–254. doi: 10.1007/s00414-005-0029-y PubMedCrossRefGoogle Scholar
  31. 31.
    Tomas C, Pereira V, Morling N (2012) Analysis of 12 X-STR in Greenlanders, Danes and Somalis using Argus X-12. Int J Legal Med 126:121–128PubMedCrossRefGoogle Scholar
  32. 32.
    Czarnogórska M, Sanak M, Piniewska D, Polańska N, Stawowiak A, Opolska-Bogusz B (2010) Identification of rare genetic variants at DXS10074, DXS 10079, DXS10146 and DXS10148 loci of investigator argus X-12 multiplex in the south Polish population. Arch Med Sadowei Kryminol 60(4):235–242Google Scholar
  33. 33.
    Zhang S, Zhao S, Zhu R, Li C (2012) Genetic polymorphisms of 12 X-STR for forensic purposes in Shanghai Han population from China. Mol Biol Rep 39:5705–5707PubMedCrossRefGoogle Scholar
  34. 34.
    Afonso Costa H, Viera da Silva C, Amorim A, Morais P, Matos S, Marques dos Santos R, Espinheira R, Costa Santos J (2012) Genetic portrait of 12 X-STR Loci in Cabo Verde immigrant population living in Lisboa. Int J Legal Med 126(Suppl 1):S121–S384Google Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Heloísa Afonso Costa
    • 1
    • 6
    Email author
  • Paulo Morais
    • 1
    • 5
  • Cláudia Vieira da Silva
    • 1
    • 6
  • Sara Matos
    • 1
    • 5
  • Rodolfo Marques Santos
    • 1
    • 6
  • Rosa Espinheira
    • 1
    • 6
  • Jorge Costa Santos
    • 2
    • 3
    • 6
  • António Amorim
    • 1
    • 4
    • 6
  1. 1.Serviço de Genética e Biologia ForensesInstituto Nacional de Medicina Legal e Ciências Forenses I.P.LisboaPortugal
  2. 2.Serviço de Clínica ForenseInstituto Nacional de Medicina Legal e Ciências ForensesLisbonPortugal
  3. 3.Medicina Legal e Ciências Forenses, Faculdade de MedicinaUniversidade de LisboaLisbonPortugal
  4. 4.Ciências Forenses e CriminaisInstituto Superior de Ciências de Saúde Egas MonizCaparicaPortugal
  5. 5.Biologia Molecular em SaúdeEscola Superior de Saúde Egas MonizAlmadaPortugal
  6. 6.CENCIFOR - Centro de Ciências ForensesCoimbraPortugal

Personalised recommendations