Forensic Science International: Genetics
Volume 5, Issue 5 , Pages 550-551 , November 2011

A molecular analysis of three amelogenin negative males in two routine paternity tests

  • Karl Zehethofer

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +43 0732 946601; fax: +43 0732 946602.

Received 7 April 2010

References 

  1. Maciejewska A, Pawłowski R. A rare mutation in the primer binding region of the Amelogenin X homologue gene. Forensic Sci. Int. Genet. 2009;3:265–267
  2. Plöchl E, Vlasak I, Rittinger O, Bergendi E, Stopar M, Kurnik P, et al. Clinical, cytogenetic and molecular analysis of three 46,XX males. J. Pediatr. Endocrinol. Metab. 1999;12:389–395
  3. Takayama T, Takada N, Suzuki R, Nagaoka S, Watanabe Y, Kumagai R, et al. Determination of deleted regions from Yp11.2 of an amelogenin negative male. Leg. Med. (Tokyo). 2009;11(Suppl. 1S):578–580
  4. Jobling MA, Lo IC, Turner DJ, Bowden GR, Lee AC, Xue Y, et al. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum. Mol. Genet. 2007;16:307–316
  5. Kumagai R, Sasaki Y, Tokuta T, Biwasaka H, Aoki Y. DNA analysis of family members with deletion in Yp11.2 region containing amelogenin locus. Leg. Med. (Tokyo). 2008;10:39–42
  6. Chang YM, Perumal R, Keat PY, Yong RY, Kuehn DL, Burgoyne L. A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Y(p)11.2 (DYS458-MSY1-AMEL-Y) deletion. Forensic Sci. Int. 2007;166:115–120
  7. Chang YM, Burgoyne LA, Both K. Higher failures of amelogenin sex test in an Indian population group. J. Forensic Sci. 2003;48:1309–1313
  8. Mitchell RJ, Kreskas M, Baxter E, Buffalino L, Van Oorschot RA. An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination. Ann. Hum. Biol. 2006;33:227–240
  9. Michael A, Brauner P. Erroneous gender identification by the amelogenin sex test. J. Forensic Sci. 2004;49:258–259
  10. Steinlechner M, Berger B, Niederstätter H, Parson W. Rare failures in the amelogenin sex test. Int. J. Legal Med. 2002;116:117–120
  11. Shadrach B, Commane M, Hren C, Warshawsky I. A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J. Mol. Diagn. 2004;6:401–405
  12. Caratti S, Voglino G, Cirigliano V, Ghidini A, Taulli R, Torre C, et al. Amplification failure of the amelogenin gene (AMELX) caused by a primer binding site mutation. Prenat. Diagn. 2009;29:1180–1182
  13. Chen AP, Chen Y, Wang HP, Chen WH, Chen H, Chen LX, et al. Types and frequencies of variants in Amelogenin gene in Chinese population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24:615–619(Chinese)
  14. von Wurmb-Schwark N, Bosinski H, Ritz-Timme S. What do the X and Y chromosomes tell us about sex and gender in forensic case analysis?. J. Forensic Leg. Med. 2007;14:27–30(review)
  15. de la Chapelle A, Hortling H, Niemi M, Wennstroem J. XX sex chromosomes in a human male. First case. Acta Med. Scand. 1964;175(Suppl. 412):25–28
  16. Rego A, Margarit E, Estivill X, Regal M, García-Mayor RV. Development in a 46 XX boy with positive SRY gene. J. Pediatr. Endocrinol. Metab. 1996;9:623–626
  17. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J. Clin. Endocrinol. Metab. 2007;92:3458–3465
  18. Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, et al. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J. Pediatr. Endocrinol. Metab. 2005;18:739–748
  19. Rizvi AA. 46 XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management. Am. J. Med. Sci. 2008;335:307–309
  20. Esteve CA, Niederstätter H, Parson W. “GenderPlex” a PCR multiplex for reliable gender determination of degraded human DNA samples and complex gender constellations. Int. J. Legal Med. 2009;123:459–464
  21. Kastelic V, Budowle B, Drobnic K. Validation of SRY marker for forensic casework analysis. J. Forensic Sci. 2009;54:551–555

PII: S1872-4973(10)00080-3

doi: 10.1016/j.fsigen.2010.04.006

Forensic Science International: Genetics
Volume 5, Issue 5 , Pages 550-551 , November 2011