Skip to main content

Genetic characteristics and population study of 4 X-chromosomal STRs in Koreans: evidence for a null allele at DXS9898


The four X-chromosomal short tandem repeats (STRs), DXS9898, DXS6809, DXS7424 and DXS10011 were analyzed by single multiplex PCR in 150 male and 150 female Koreans. The loss of an allele at DXS9898 was observed in 13 out of 450 chromosomes (2.9%) and the PCR analysis showed that the X-chromosome with a null allele at DXS9898 has more than 1 kb deletion at the DXS9898 locus. Statistical analyses for these four X-STRs showed that they are highly informative for forensic application in Koreans. No linkage disequilibrium was observed among these four STRs and the previously reported five polymorphic STRs, HumARA, DXS101, GATA172D05, HPRTB and DXS8377 in Koreans. The test of homogeneity between allele frequencies revealed that there are some discrepancies in allele distributions between Koreans and Germans.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2
Fig. 3A-B


  1. Urquhart A, Kimpton CP, Downes TJ, Gill P (1994) Variation in short tandem repeat sequences: a survey of twelve microsatellite loci for use as forensic identification markers. Int J Legal Med 107:13–20

    CAS  PubMed  Google Scholar 

  2. Brinkmann B (1998) Overview of PCR-based systems in identity testing. Methods Mol Biol 98:105–119

    Article  CAS  PubMed  Google Scholar 

  3. Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118–124

    CAS  PubMed  Google Scholar 

  4. 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

    CAS  PubMed  Google Scholar 

  5. Shin KJ, Kwon BK, Lee SS et al. (2004) Five highly informative X-chromosomal STRs in Koreans. Int J Legal Med 118:37–40

    Article  PubMed  Google Scholar 

  6. 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

    Article  PubMed  Google Scholar 

  7. Son JY, Lee YS, Choung CM, Lee SD (2002) Polymorphism of nine X chromosomal STR loci in Koreans. Int J Legal Med 116:317–321

    PubMed  Google Scholar 

  8. Huang DX, Liang WB, Wu MY (2002) Genetic polymorphism of the STR DXS9898 locus in Han population. Fa Yi Xue Za Zhi 18:150–151, 154

    PubMed  Google Scholar 

  9. Edelmann J, Hering S, Kuhlisch E, Szibor R (2002) Validation of the STR DXS7424 and the linkage situation on the X-chromosome. Forensic Sci Int 125:217–222

    Article  CAS  PubMed  Google Scholar 

  10. Edelmann J, Deichsel D, Plate I, Kaser M, Szibor R (2003) Validation of the X-chromosomal STR DXS6809. Int J Legal Med 117:241–244

    Article  CAS  PubMed  Google Scholar 

  11. Watanabe G, Umetsu K, Yuasa I, Suzuki T (2000) DXS10011: a hypervariable tetranucleotide STR polymorphism on the X chromosome. Int J Legal Med 113:249–250

    PubMed  Google Scholar 

  12. Tamura A, Iwata M, Takase I, Miyazaki T, Matsui K, Nishio H, Suzuki K (2004) Analysis of two types of novel alleles in the DXS10011 locus. Legal Med 6:52–54

    Article  CAS  Google Scholar 

  13. 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. International Society for Forensic Haemogenetics. Int J Legal Med 110:175–176

    PubMed  Google Scholar 

  14. Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M (2001) Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 65:421–427

    Article  CAS  PubMed  Google Scholar 

  15. Nei M, Roychoudhury AK (1974) Sampling variances of heterozygosity and genetic distance. Genetics 76:379–390

    CAS  PubMed  Google Scholar 

  16. 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 32:314–331

    CAS  PubMed  Google Scholar 

  17. 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 43:1046–1049

    PubMed  Google Scholar 

  18. Schneider S, Roessli D, Excoffier L (2000) Arlequin ver. 2000: a software for population genetics data analysis. Genetics and Biochemistry Laboratory, University of Geneva, Switzerland

  19. Szibor R, Edelmann J, Hering S et al. (2003) Cell line DNA typing in forensic genetics—the necessity of reliable standards. Forensic Sci Int 138:37–43

    Article  CAS  PubMed  Google Scholar 

  20. Kishida T, Tamaki Y (1997) Japanese population data on X-chromosomal STR locus AR. Nippon Hoigaku Zasshi 51:376–379

    PubMed  Google Scholar 

  21. Kishida T, Wang W, Fukuda M, Tamaki Y (1997) Duplex PCR of the Y-27H39 and HPRT loci with reference to Japanese population data on the HPRT locus. Nippon Hoigaku Zasshi 51:67–69

    PubMed  Google Scholar 

  22. Lonjou C, Zhang W, Collins A, Tapper WJ, Elahi E, Maniatis N, Morton NE (2003) Linkage disequilibrium in human populations. Proc Natl Acad Sci U S A 100:6069–6074

    Article  CAS  PubMed  Google Scholar 

  23. Chakravarti A (1999) Population genetics—making sense out of sequence. Nat Genet 21:56–60

    CAS  PubMed  Google Scholar 

Download references


This work was supported by a grant from the Korea Science and Engineering Foundation (KOSEF) through the Biometrics Engineering Research Center (BERC) at Yonsei University. We want to acknowledge and thank Dr. Shim and his family members for voluntarily providing buccal samples.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Kyoung-Jin Shin.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Lee, H.Y., Park, M.J., Jeong, C.K. et al. 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 (2004).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • STR
  • X-chromosome
  • Null allele
  • Korea