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.
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Authors | David C Hinselwood, David J Warren, Per O Ekstrøm |
Journal | Electrophoresis
(Electrophoresis)
Vol. 26
Issue 13
Pg. 2562-6
(Jun 2005)
ISSN: 0173-0835 [Print] Germany |
PMID | 15934052
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Amelogenin
- Dental Enamel Proteins
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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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