Abstract
Short tandem repeat (STR) markers are extensively being used for human identification as well as paternity and forensic case work. X-chromosome STR (X-STR) markers are a powerful complementary system especially in deficiency paternity testing. Many X-linked microsatellites have been evaluated but further studies are required to determine population specific statistics. Here, we report allele frequencies of 13 X-linked microsatellites (DXS8378, DXS9902, DXS6810, DXS7132, DXS981, DXS6793, DXS6801, DXS6789, GATA172D05, HPRTB, GATA31E08, DXS8377, and DXS7423) in the Pakistani population. Blood samples were collected from individuals representing all major ethnic groups of the Pakistan population. A total of 5–18 alleles were observed for each locus and altogether 109 alleles for all 13 X-STR loci. Heterozygosity in females ranged from 0.524 to 0.884. No significant deviation was observed from Hardy–Weinberg equilibrium for all 13 microsatellites. In addition, there was no evidence of linkage disequilibrium in any pairs of these markers. These results strongly suggest that the X-linked microsatellites described here can potentially serve as an extension to autosomal systems currently used in parentage analysis and forensic case work.
References
Pereira R, Gomes I, Amorim A, Gusmao L (2007) Genetic diversity of 10 X chromosome STRs in northern Portugal. Int J Legal Med 121:192–197
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
Shin KJ, Kwon BK, Lee SS, Yoo JE, Park MJ, Chung U, Lee HY, Han GR, Choi JH, Kim CY (2004) Five highly informative X-chromosomal STRs in Koreans. Int J Legal Med 118:37–40
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
Lee HY, Park MJ, Chung U, Lee HY, Yang WI, Cho SH, Shin KJ (2007) Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs. Int J Legal Med 121:128–135
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
Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
Szibor R, Edelmann J, Hering S, Plate I, Wittig H, Roewer L, Wiegand P, Cali F, Romano V, Michael M (2003) Cell line DNA typing in forensic genetics—the necessity of reliable standards. Forensic Sci Int 138:37–43
Bar W, Brinkmann B, Budowle B, Carracedo A, Gill P, Lincoln P, Mayr W, Olaisen B (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
Raymond M, Rousset F (1995) GENEPOP version 1.2: population genetics software for exact tests and ecumenicism. J Heredity 86:248–249
Szibor R, Hering S, Edelmann J (2006) A new Web site compiling forensic chromosome X research is now online. Int J Legal Med 120:252–254
Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinformatics Online 1:47–50
Gomes I, Prinz M, Pereira R, Meyers C, Mikulasovich RS, Amorim A, Carracedo A, Gusmao L (2007) Genetic analysis of three US population groups using an X-chromosomal STR decaplex. Int J Legal Med 121:198–203
Jia Y, Zhou B, Liang WB, Lv ML, Zhang L (2004) Two X-chromosome STR loci DXS6803 and XS6793 frequency data in Chinese population. J Forensic Sci 49:845–846
Edelman J, Hering S, Michael M, Lessig R, Deischel D, Meier-Sundhausen G, Roewer L, Plate I, Szibor R (2001) 16 X-chromosome STR loci frequency data from a German population. Forensic Sci Int 124:215–218
Pico A, Castillo A, Vargas C, Amorim A, Gusmao L (2008) Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia. Int J Legal Med
Turrina S, De LD (2003) Population data of three X-chromosomal STRs: DXS7132, DXS7133 and GATA172D05 in North Italy. J Forensic Sci 48:1428–1429
Zalan A, Volgyi A, Jung M, Peterman O, Pamjav H (2007) Hungarian population data of four X-linked markers: DXS8378, DXS7132, HPRTB, and DXS7423. Int J Legal Med 121:74–77
Robino C, Giolitti A, Gino S, Torre C (2006) Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample. Int J Legal Med 120:315–318
Szibor R, Hering S, Kuhlisch E, Plate I, Demberger S, Krawczak M, Edelmann J (2005) Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing. Int J Legal Med 119:363–369
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
Acknowledgements
The authors are grateful to all individuals for their participation in this study. This work was supported in part by Higher Education Commission, Islamabad, Pakistan and Ministry of Science and Technology, Islamabad, Pakistan.
Author information
Authors and Affiliations
Corresponding authors
Electronic supplementary material
Below is the link to the electronic supplementary material.
Supplementary Table 1
Primer sequences, labeling and references for X-chromosomal STRs. (XLS 23.0 KB)
Supplementary Table 2
Observed allele frequencies for X-chromosomal STRs in Pakistani population (n = 432). (XLS 25.5 KB)
Supplementary Table 3
Haplotype frequencies and standard errors (S.E.) for DXS6801 and DXS6789 in Pakistani male sub sample (n = 285). (XLS 24.0 KB)
Rights and permissions
About this article
Cite this article
Tariq, M.A., Ullah, O., Riazuddin, S.A. et al. Allele frequency distribution of 13 X-chromosomal STR loci in Pakistani population. Int J Legal Med 122, 525–528 (2008). https://doi.org/10.1007/s00414-008-0263-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00414-008-0263-1