Analysis of the Short Tandem Repeat Loci for STRX1, HPRTB, ARA, DYS390, DYS392 and DYS393 in Koreans

  • Seol, Hye-Won (Department of Biology, College of Natural Sciences, Sungshin Women's University) ;
  • Zaw Tun (Department of Legal Medicine, Medical School, Osaka University) ;
  • Katsuya Honda (Department of Legal Medicine, Medical School, Osaka University) ;
  • Shogo Misawa (Department of Legal Medicine, School of Medicine, Tsukuba University) ;
  • Park, Kyung-Sook (Department of Biology, College of Natural Sciences, Sungshin Women's University)
  • Published : 2001.09.01

Abstract

Three STR loci (STRX1[AGAT]$_{n}$, HPRTB[AGAT]$_{n}$ and ARA[AGC]$_{n}$) on X chromosome and three other STR loci (DYS390[CTG(A)T]$_{n}$, DYS392[ATT]$_{n}$ and DYS39[GATA]$_{n}$) on Y chromosome were analyzed in 154 unrelated healthy Korean subjects. Four loci (STRX1, HPRTB, DYS390 and DYS393) were amplified by quadruplex polymerase chain reaction (PCR) using fluorescent labeled primers (FLP). ARA and DYS392 were amplified separately using single PCR, similarly by using FLP. They were then run in an automated DNA sequencer and were analyzed with Genescan software. We found 7 alleles (308-332 bp) in STRX1, 7 alleles (275-299 bp) in HPRTB, 16 alleles (252-315 bp) in ARA, 6 alleles (203-223 bp) in DYS390, 7 alleles (245-263bp) in DYS392 and 5 alleles (116-132 bp) in DYS393. The *13(34%), *13(5l%), *23 (l8%), *23(50%), *14(39%) and *13(40%) alleles were observed to be the highest frequencies of STRX1, HPRTB, ARA, DYS390, DYS392 and DYS393, respectively. The detection of STR loci on sex chromosomes by quadruplex PCR allows simple determination of sex and identification of an individual. individual.

Keywords

References

  1. Bar W, Brinkmann B, Budowle B, Carracedo A, Gill P, Lincoln P, Mayr W, and Olaisen B (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 https://doi.org/10.1007/s004140050061
  2. Gavalli-Sforza LL (1998) The DNA revolution in population genetics. Trends Genet 14: 60-65 https://doi.org/10.1016/S0168-9525(97)01327-9
  3. Carvalho-Silva DR, Santos FR ,Rocha J, and Pena DJ (2001) The phylogeography of Brazillian Y-chromosome lineasges. AM. J Hum Genet 68: 281-286 https://doi.org/10.1086/316931
  4. Ciminelli BM, Pompei F, Malaspina P, Hammer M, Persichetti F, Pignatti PF, Palena A, Anagnou N, Guanti G, Jodice C, Terrenato L, and Novelletto A (1995) Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations. J Mol Evol 41: 966-973 https://doi.org/10.1007/BF00173177
  5. De Knijff P, Kayser M, Cagli A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidom F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, and Roewer L (1997) Chromosome Y microsatellites: population genetics and evolutionary aspects. Int J Legal Med 110: 134-140 https://doi.org/10.1007/s004140050052
  6. Edwards A, Civitello A, Hammond HA and Caskey CT (1991) DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 49: 746-756
  7. Edwards A, Hammond HA, Jin L, Caskey CT, and Chakraborty R (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 241-253 https://doi.org/10.1016/0888-7543(92)90371-X
  8. Hammer MF, and Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56: 951-962
  9. Hammond HA, Jin L, Zhong Y, Caskey CT, and Chakraborty R (1994) Evaulation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet 55: 175-189
  10. Han MS, Kang PW, Choi DH, Lee YH, Choi SK, and Kim W (2001) Genetic variation at eight STR loci in the Korean population. Forensic Sci Int 116: 35-36 https://doi.org/10.1016/S0379-0738(00)00334-0
  11. Hearne CM, Chosh S, and Todd JA (1992) Microsatellites for linkage analysis of genetic traits. Trends Genet 8: 288-294 https://doi.org/10.1016/0168-9525(92)90256-4
  12. Jeffreys AJ, Wilson V, and Thein SL (1985) Hypervariable 'ministellite 'regions in human DNA. Nature 314: 67-73 https://doi.org/10.1038/314067a0
  13. Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorm F, Hermann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, de Knijff P, and Roewer L (1997a) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110: 125-133 https://doi.org/10.1007/s004140050051
  14. Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorm F, Herrmann S, Herzog, B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szilbor R, Teifel-Greding J, Weichhold G, de Knijff P, and Roewer L (1997b) Reference tables to evaluation of Y-chromosomal STRs: a multicenter study and chromosome Y microsatellites population genetics and evolutionary aspects. Int J Legal Med 110: 141-149 https://doi.org/10.1007/s004140050053
  15. Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kruger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, and Sajantila A (2000) Characteristics and frequency of germline mutations at microsatellite loci vation in father/son pairs. Am J Hum Genet 66: 1580-1588 https://doi.org/10.1086/302905
  16. Kayser M, Brauer S, Weiss G, Schiefenhovel W, Underhill PA, and Stoneking M (2001) Independent histories of human Y chromosomes from Melanesia and Australia. Am J Hum Genet 68: 173-190 https://doi.org/10.1086/316949
  17. Kim W, Shin DJ, Harihara S, and Kim YJ (2000) Y chromosomal DNA variation in East Asian populations and its potential for inferring the peopling of Korea. J Hum Genet 45: 76-83 https://doi.org/10.1007/s100380050015
  18. Kim W, Shin DJ, You SA, and Kim YJ (1998) Y-specific DNA polymorphisms of the YAP element and the locus DYS 19 in the Korean population. J Hum Genet 43: 195-198 https://doi.org/10.1007/s100380050069
  19. Kim YJ, Shin DJ, Kim JM, Jin HJ, Kwak KD, Han MS, Choi SK, and Kim W (2001) Y-chromosome STR haplotype profiling in the Korean population. Forensic Sci Int 115: 231-237 https://doi.org/10.1016/S0379-0738(00)00332-7
  20. Kishida T, and Tamaki Y (1997) Japanese population data on X chromosomal STR locus AR. Jpn J Legal Med 51: 376-379
  21. Perez-Lezaun A, Calafell F, Seielstad M, Mateu E, Comas D, Bosch E, and Bertranpetit J (1997) Population genetics of Y-chromosome short tandem repeats in humans. J Mol Evol 45: 265-270 https://doi.org/10.1007/PL00006229
  22. Roewer L, Arnemann J, Spurr NK, Grzeschik KH, and Epplen JT (1992) Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet 89: 389-394 https://doi.org/10.1007/BF00194309
  23. Rossi E, Rolf B, Schurenkamp M, and Brinkmann B (1998) Y-chromosome STR haplotypes in an Italian population sample. Int J Legal Med 112: 78-81 https://doi.org/10.1007/s004140050206
  24. Ryu KH, and Kim W (1996) Analysis of polymorphism for an Alu element on the Y chromosome (YAP) in Korean population. Korean J Genet 18: 39-47
  25. Sasaki M and Dahiya R (2000) The polymorphism of various short tandem repeats on the Y chromosome in Japanese and German populations. Int J Legal Med 113: 181-188 https://doi.org/10.1007/s004140050295
  26. Shin DJ, Kim YJ, and Kim W (1998) PCR-based polymorphic analysis for the Y chromosomal loci DYS19 and DXYS5Y (47z) in the Korean population. Korean J Biol Sci 2: 281-285
  27. Tun Z, Honda K, Nakatome M, Nakamura M, Shimada S, Ogura Y, Kuroki H, Yamazaki M, Terada M, and Matoba R (1999) Simultaneous detection of multiple STR loci on sex chromosomes for forensic testing sex and identity. J Forensic Sci 44: 772-777
  28. Wu FC, and Pu CE (2001) Multiplex DNA typing of short tandem repeat loci on Y chromosome of chinese population in Taiwan. Forensic Sci Int 120: 213-222 https://doi.org/10.1016/S0379-0738(01)00388-7