International Journal of Legal Medicine

, Volume 125, Issue 1, pp 121–125 | Cite as

A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles

  • Isao Yuasa
  • Yoshito Irizawa
  • Hiroaki Nishimukai
  • Yasuo Fukumori
  • Kazuo Umetsu
  • Nori Nakayashiki
  • Naruya Saitou
  • Lotte Henke
  • Jürgen Henke
Short Communication

Abstract

In this study, a short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I (CFI) gene was studied in 637 DNA samples obtained from African, German, Thai, and Japanese populations and German and Japanese families. A total of 41 alleles were observed and classified into two groups, L and H, based on size differences. Group H, which consisted of 16 alleles, was observed only in Thai and Japanese populations at frequencies of 0.162 and 0.116, respectively, and was strongly associated with c.1217A in exon 11 (CFI*Ah). The heterozygosity values ranged from 0.89 in German to 0.93 in Thai populations. This STR would be a useful supplementary marker for forensic individualization.

Keywords

Asian-specific Complement factor I Microsatellite Population study Short tandem repeat 

Supplementary material

414_2009_369_MOESM1_ESM.doc (44 kb)
Table S1Allele nomenclature, fragment length, and repeat composition of 113 PCR fragments (alleles 16-55.3) (DOC 44 kb)
414_2009_369_MOESM2_ESM.doc (32 kb)
Table S2Comparison of nucleotide sequence in STR and its flanking regions (DOC 31 kb)
414_2009_369_MOESM3_ESM.doc (32 kb)
Table S3Distribution of allele frequencies for SNPs and STR in the CFI gene and parameters of forensic interest (DOC 31 kb)

References

  1. 1.
    Schroeder KB, Schurr TG, Long JC et al (2007) A private allele ubiquitous in the Americas. Biol Lett 3:218–223CrossRefPubMedGoogle Scholar
  2. 2.
    Phillips C, Rodriguez A, Mosquera-Miguel A et al (2009) D9S1120, a simple STR with a common Native American-specific allele: forensic optimization, locus characterization and allele frequency studies. Forens Sci Int Genet 3:7–13CrossRefGoogle Scholar
  3. 3.
    Yuasa I, Nakagawa M, Umetsu K et al (2008) Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific. J Hum Genet 53:1016–1021CrossRefPubMedGoogle Scholar
  4. 4.
    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 110:175–176CrossRefPubMedGoogle Scholar
  5. 5.
    Excoffier L, Laval G, Schneider S (2005) Arlequin ver 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50PubMedGoogle Scholar
  6. 6.
    Hartl DL, Clark AG (1997) Principles of population genetics, 3rd edn. Sinauer, Sunderland, MAGoogle Scholar
  7. 7.
    Handley LJL, Manica A, Goudet J, Balloux F (2007) Going the distance: human population genetics in a clinal world. Trends Genet 23:432–439CrossRefPubMedGoogle Scholar
  8. 8.
    Keinan A, Mullikin JC, Patterson N, Reich D (2007) Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet 39:1251–1255CrossRefPubMedGoogle Scholar
  9. 9.
    Griffiths RA, Barber MD, Johnson PE et al (1998) New reference allelic ladders to improve allelic designation in a multiplex STR system. Int J Legal Med 111:267–272CrossRefPubMedGoogle Scholar
  10. 10.
    Butler JM et al (2005) Forensic DNA typing. Biology, technology, and genetics of STR markers. Elsevier, AmsterdamGoogle Scholar
  11. 11.
    Montelius K, Karlsson AO, Holmlund G (2008) STR data for the AmpFlSTR Identifiler loci from Swedish population in comparison to European, as well as with non-European population. Forensic Sci Int Genet 2:e49–52CrossRefPubMedGoogle Scholar
  12. 12.
    Hohoff C, Schürenkamp M, Brinkmann B (2009) Meiosis study in a population sample from Nigeria: allele frequencies and mutation rates of 16 STR loci. Int J Legal Med 123:259–261Google Scholar
  13. 13.
    Grubwieser P, Zimmermann B, Niederstätter H, Pavlic M, Steinlechner M, Parson W (2007) Evaluation of an extended set of 15 candidate STR loci for paternity and kinship analysis in an Austrian population sample. Int J Legal Med 121:85–89CrossRefPubMedGoogle Scholar
  14. 14.
    Hering S, Augustin C, Edelmann J, Heidel M, Chamaon K, Dressler J, Szibor R (2008) Complex variability of intron 40 of the von Willebrand factor (vWF) gene. Int J Legal Med 122:67–71CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Isao Yuasa
    • 1
  • Yoshito Irizawa
    • 1
  • Hiroaki Nishimukai
    • 2
  • Yasuo Fukumori
    • 3
  • Kazuo Umetsu
    • 4
  • Nori Nakayashiki
    • 5
  • Naruya Saitou
    • 6
  • Lotte Henke
    • 7
  • Jürgen Henke
    • 7
  1. 1.Division of Legal Medicine, Faculty of MedicineTottori UniversityYonagoJapan
  2. 2.Division of Legal MedicineEhime University School of MedicineEhimeJapan
  3. 3.Osaka Red Cross Blood CenterOsakaJapan
  4. 4.Department of Experimental and Forensic Pathology, Faculty of MedicineYamagata UniversityYamagataJapan
  5. 5.Department of Legal MedicineIwate Medical University School of MedicineMoriokaJapan
  6. 6.Division of Population GeneticsNational Institute of GeneticsMishimaJapan
  7. 7.Institut für BlutgruppenforschungCologneGermany

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