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High-throughput gender determination using automated denaturant gel capillary electrophoresis.

Abstract
Sex determination of anonymous samples is a requirement before analysis of DNA variation on X or Y chromosomes. Based on this, we designed a method for screening samples on different DNA capillary sequencing instruments with a sensitivity that is able to quantify sex chromosome abnormalities. The two different amelogenin alleles sited on the X and Y chromosomes were polymerase chain reaction amplified with the same set of primers and separated by denaturant capillary electrophoresis (DCE). Sex chromosome ratios could be reproducibly determined with a relative standard deviation of 8.7%, which is sufficient to distinguish a normal XY karyotype from an XYY karyotype associated with Klinefelter syndrome. Reconstruction experiments demonstrated sensitivity down to a simulated Y:X allelic ratio of 1:127 in all three instruments, enabling the prediction of sex chromosomal aneuploidies. When tested on anonymous pooled and single samples, DCE gave a good prediction of the male to female ratio in pools of 1000 blood donors. In conclusion, DCE is a simple and robust method for sex determination that can be readily performed on commercially available CE systems.
AuthorsDavid C Hinselwood, David J Warren, Per O Ekstrøm
JournalElectrophoresis (Electrophoresis) Vol. 26 Issue 13 Pg. 2562-6 (Jun 2005) ISSN: 0173-0835 [Print] Germany
PMID15934052 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Amelogenin
  • Dental Enamel Proteins
Topics
  • Alleles
  • Amelogenin
  • Dental Enamel Proteins (genetics)
  • Electrophoresis, Capillary (methods)
  • Female
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Sensitivity and Specificity
  • Sex Determination Analysis (methods)

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