Sex-Typing Markers

[References to Sex-typing Markers]

Locus (reference)


Product Size






X = 106 bp

Y = 112 bp

may be multiplexed with STRs





X = 212 bp

Y = 218 bp

may be multiplexed with STRs or D1S80

Amelogenin (99)



X = 977 bp

Y = 788 bp

may be analyzed with agarose gels





X = 80 bp

Y = 83 bp

may be multiplexed with miniSTRs

Centromeric alphoid repeat (98)





X = 157 bp

Y = 200 bp

both X- and Y-sequences were coamplified

Centromeric alphoid repeat (100)





X = 170 bp

Y = 130 bp

separate PCR reactions were performed

ZFX/ZFY zinc finger gene 




X/Y = 209bp

after HaeIII cuts

X = 172 +37 

Y = 88 +84 +37

reverse dot blot typing assay; may be used with AmpliType PM and HLA-DQA1

SRY 93
(800, 1185)


Y = 93 bp

can be multiplexed with amelogenin


Sex-Typing References

688. Akane, A. (1998) Sex determination by PCR analysis of the X-Y amelogenenin gene. Methods Mol. Biol. 98:245-249.

523. Ambach, E., Parson, W., Niederstatter, H., and Budowle, B. (1997) Austrian caucasian population data for the quadruplex plus amelogenin: Refined mutation rate for HumvWFA31/A. J. Forensic Sci. 42(6):1136-1139.

16. Budowle, B., Koons, B.W. and Errera, J.D. (1996) Multiplex amplification and typing procedure for the loci D1S80 and amelogenin. J. Forensic Sci. 41: 660-663.

101. Buel, E., Wang, G. and Schwartz, M. (1995) PCR amplification of animal DNA with human X-Y amelogenin primers used in gender determination. J. Forensic Sci. 40: 641-644.

665. Buel, E., Schwartz, M., and LaFountain, M.J. (1998) Capillary electrophoresis STR analysis: Comparison to gel-based systems. J. Forensic Sci. 43(1):164-170.

707. Butler, J.M., Li, J., Shaler, T.A., Monforte, J.A., and Becker, C.H. (1998) Reliable genotyping of short tandem repeat loci without an allelic ladder using time-of-flight mass spectrometry. Int. J. Legal Med. 112(1):45-49.

660. Chowdhury, M.R., Mathur, R., and Verma, I.C. (1998) Utility of XY-amelogenin gene primers for detection of sex chromosomes. Indian J. Med. Res. 107:182-186.

61. Clayton, T.M., Whitaker, J.P. and Maguire, C.N. (1995) Identification of bodies from the scene of a mass disaster using DNA amplification of short tandem repeat (STR) loci. Forensic Sci. Int. 76: 7-15.

483. Crouse, C. and Glidewell, D. (1997) Practical application of STRs to casework and acceptance in the courtroom. Proceedings from the Seventh International Symposium on Human Identification. Promega Corp. 97-100.

99. Eng, B., Ainsworth, P. and Waye, J.S. (1994) Anomalous migration of PCR products using nondenaturing polyacrylamide gel electrophoresis: the amelogenin sex-typing system. J. Forensic Sci. 39: 1356-1359.

426. Faerman, M., Filon, D., Kahila, G., Greenblatt, C.L., Smith, P. and Oppenheim, A. (1995) Sex identification of archaeological human remains based on amplification of the X and Y amelogenin alleles. Gene 167: 327-332.

654. Findlay, I., Toth, T., Matthews, P., Marton, T., Quirke, P., and Papp, Z. (1998) Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: Applications for prenatal diagnosis and preimplantation genetic diagnosis. J. Assist. Reprod. Genet. 15(5):266-275.

758. Fregeau, C.J., Bowen, K.L., and Fourney, R.M. (1999) Validation of highly polymorphic fluoresceht multiplex short tandem repeat systems using two generations of DNA sequencers. J. Forensic Sci. 44(1):133-166.

716. Griffiths, R.A.L., Barber, M.D., Johnson, P.E., Gillbard, S.M., Haywood, M.D., Smith, C.D., Arnold, J., Burke, T., Urquhart, A., and Gill, P. (1998) New reference allelic ladders to improve allelic designation in a multiplex STR system. Int. J. Legal Med. 111(5):267-272.

643. Haas-Rochholz, H. and Weiler, G. (1997) Additional primer sets for an amelogenin gene PCR-based DNA-sex test. Int. J. Legal Med. 110(6):312-315.

102. Hanaoka, Y. and Minaguchi, K. (1996) Sex determination from blood and teeth by PCR amplification of the alphoid satellite family. J. Forensic Sci. 41: 855-858.

601. Herber, B. and Herold, K. (1998) DNA typing of human dandruff. J. Forensic Sci. 43(3):648-656.

60. Hochmeister, M.N., Budowle, B., Eisenberg, A., Borer, U.V. and Dirnhofer, R. (1996) Using multiplex PCR amplification and typing kits for the analysis of DNA evidence in a serial killer case. J. Forensic Sci. 41: 155-162.

62. Kimpton, C.P., Oldroyd, N.J., Watson, S.K., Frazier, R.R.E., Johnson, P.E., Millican, E.S., Urquhart, A., Sparkes, B.L. and Gill, P. (1996) Validation of highly discriminating multiplex short tandem repeat amplification systems for individual identification. Electrophoresis 17: 1283-1293.

272. Kloosterman, A.D., van der Schans, M.J., Janssen, H.J.T. and Everaerts, F.M. (1996) Rapid sex-typing by fluorescent based PCR of the X-Y homologous amelogenin gene and analysis by CGE. Advances in Forensic Haemogenetics. Volume 6, pp. 343-345.

479. Kawano, S., Tsutsumi, H., Mukoyama, R., and Komuro, T. (1997) DNA typing from a very small amount of samples by using the primer extension preamplification (PEP). First European Symposium on Human Identification (1996). p. 145.

723. LaFountain, M.J., Schwartz, M., Cormier, J., and Buel, E. (1998) Validation of capillary electrophoresis for analysis of the X-Y homologous amelogenin gene. J. Forensic Sci. 43(6):1188-1194.

100. Lin, Z., Kondo, T., Minamino, T., Ohtsuji, M., Nishigami, J., Takayasu, T., Sun, R. and Ohshima, T. (1995) Sex determination by polymerase chain reaction on mummies discovered at Taklamakan desert in 1912. Forensic Sci. Int. 75: 197-205.

97. Mannucci, A., Sullivan, K.M., Ivanov, P.L. and Gill, P. (1994) Forensic application of a rapid and quantitative DNA sex test by amplification of the X-Y homologous gene amelogenin. Int. J. Leg. Med. 106: 190-193.

180. Mannucci, A., Sullivan, K.M., Ivanov, P.L., Kimpton, C.P. and Gill, P. (1994) DNA sex test: a new rapid and quantitative forensic approach using amelogenin gene based fluorescent PCR. Advances in Forensic Haemogenetics. Volume 5, pp. 329-332.

186. Martin, P., Alonso, A., Albarran, C. and Sancho, M. (1994) Sex determination in forensic samples by PCR: a comparison of two alternative (AMGL/AMG and DYZ3/DXZ1) markers. Advances in Forensic Haemogenetics. Volume 5, pp. 369-371.

1185. McKeown, B., Stickley, J., and Riordan, A. (2000) Gender assignment by PCR of the SRY gene: an improvement on amelogenin. Progress in Forensic Genetics 8 (1999). 8: 433-435.

533. Miscicka-Sliwka, D., Grzybowski, T., and Wozniak, M. (1997) Optimization of a hexaplex DNA amplification from short tandem repeat and amelogenin loci. Electrophoresis 18:1627-1632.

98. Neeser, D. and Liechti-Gallati, S. (1995) Sex determination of forensic samples by simultaneous PCR amplification of a-satellite DNA from both the X and Y chromosomes. J. Forensic Sci. 40: 239-241.

8. Oldroyd, N.J., Urquhart, A.J., Kimpton, C.P., Millican, E.S., Watson, S.K., Downes, T. and Gill, P.D. (1995) A highly discriminating octoplex short tandem repeat polymerase chain reaction system suitable for human individual identification. Electrophoresis 16: 334-337.

542. Pouchkarev, V.P., Shved, E.F., and Novikov, P.I. (1998) Sex determination of forensic samples by polymerase chain reaction of the amelogenin gene and analysis by capillary electrophoresis with polymer matrix. Electrophoresis 19(1):76-79.

468. Prinz, M., Boll, K., Baum, H., and Shaler, B. (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci. Int. 85:209-218.

103. Reynolds, R. and Varlaro, J. (1996) Gender determination of forensic samples using PCR amplification of ZFX/ZFY gene sequences. J. Forensic Sci. 41: 279-286.

229. Rousselet, F., Pfitzinger, H. and Mangin, P. (1996) Multiplex amplification and automated fluorescent typing of short tandem repeat (STR) loci: the French experience. Advances in Forensic Haemogenetics. Volume 6, pp. 139-141.

478. Rousselet, F., Pfitzinger, H., and Mangin, P. (1997) A pentaplex automated fluorescent typing system for forensic identification and french caucasian population data. J. Forensic Sci. 42(3):500-503, 1997.

474. Roy, R. and Steffens, D.L. (1997) Infrared fluorescent detection of PCR amplified gender identifying alleles. J. Forensic Sci. 42(3):452-460.

800. Santos, F. R., Pandya, A., and Tyler-Smith, C. (1998) Reliability of DNA-based sex tests. Nature Genetics. 18(2): 103-103.

402. Shiono, H. (1996) Personal identification using DNA polymorphism--the identification of forensic biological materials--. Jpn. J. Legal Med. 50: 320-330.

420. Sparkes, R., Kimpton, C.P., Watson, S., Oldroyd, N.J., Clayton, T.M., Barnett, L., Arnold, J., Thompson, C., Hale, R., Chapman, J., Urquhart, A. and Gill, P. (1996) The validation of a 7-locus multiplex STR test for use in forensic casework: (I) Mixtures, ageing, degradation and species studies. Int. J. Legal Med. 109: 186-194.

104. Stacks, B. and Witte, M.M. (1996) Sex determination of dried blood stains using the polymerase chain reaction (PCR) with homologous X-Y primers of the zinc finger protein gene. J. Forensic Sci. 41: 287-290.

433. Steffens, D.L., Roy, R. and Brumbaugh, J.A. (1997) Infrared fluorescent analysis of STR alleles and gender differentiating loci. Proceedings from the First European Symposium on Human Identification (1996). pp. 107-109.

467. Steffens, D.L., Roy, R., and Brumbaugh, J.A. (1997) Multiplex amplification of STR loci with gender alleles using infrared fluorescence detection. Forensic Sci. Int. 85:225-232.

598. Strom, C.M. and Rechitsky, S. (1998) Use of nested PCR to identify charred human remains and minute amounts of blood. J. Forensic Sci. 43(3):696-700.

96. Sullivan, K.M., Mannucci, A., Kimpton, C.P. and Gill, P. (1993) A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. BioTechniques 15: 637-641.

332. Urquhart, A., Chiu, C.T., Clayton, T.M., Downes, T., Frazier, R.R.E., Jones, S., Kimpton, C.P., Lareu, M.V., Millican, E.S., Oldroyd, N.J., Thompson, C., Watson, S., Whitaker, J.P. and Gill, P. (1995) Multiplex STR systems with fluorescent detection as human identification markers. Proceedings from the 5th International Symposium on Human Identification (1994). pp. 73-83.

7. Urquhart, A., Oldroyd, N.J., Kimpton, C.P. and Gill, P. (1995) Highly discriminating heptaplex short tandem repeat PCR system for forensic identification. BioTechniques 18: 116-121.

46 References as of 07/10/07