Table of Contents
ISRN Genetics
Volume 2013 (2013), Article ID 905156, 6 pages
http://dx.doi.org/10.5402/2013/905156
Research Article

Reference Analysis in a Misclassification Model for the Meiosis I Nondisjunction Fraction in Trisomies

Department of Statistics, Universidade Federal de Minas Gerais, 31270-901 Belo Horizonte, MG, Brazil

Received 22 October 2012; Accepted 9 November 2012

Academic Editors: A. Esquela Kerscher, R. W. Pereira, and T. Saito

Copyright © 2013 Rosangela H. Loschi and Vinicius D. Mayrink. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. Valero, G. Marfany, R. Gil-Benso et al., “Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR,” Journal of Medical Genetics, vol. 36, no. 9, pp. 694–699, 1999. View at Google Scholar · View at Scopus
  2. R. H. Loschi, J. V. D. Monteiro, G. H. M. A. Rocha, and V. D. Mayrink, “Testing and estimating the non-disjunction fraction in meiosis I using reference priors,” Biometrical Journal, vol. 49, no. 6, pp. 824–839, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. D. Blake, S. L. Tan, and A. Ao, “Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects,” Molecular Human Reproduction, vol. 5, no. 12, pp. 1166–1175, 1999. View at Google Scholar · View at Scopus
  4. C. M. Ogilvie, C. Donaghue, S. P. Fox, Z. Docherty, and K. Mann, “Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR),” Journal of Histochemistry and Cytochemistry, vol. 53, no. 3, pp. 285–288, 2005. View at Publisher · View at Google Scholar · View at Scopus
  5. G. Pont-Kingdon and E. Lyon, “Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci,” Clinical Chemistry, vol. 49, no. 7, pp. 1087–1094, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. W. Schmidt, J. Jenderny, K. Hecher et al., “Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk,” Molecular Human Reproduction, vol. 6, no. 9, pp. 855–860, 2000. View at Google Scholar · View at Scopus
  7. D. K. Griffin, “The incidence, origin, and etiology of aneuploidy,” International Review of Cytology, vol. 167, pp. 263–296, 1996. View at Google Scholar · View at Scopus
  8. T. Hassold and P. Hunt, “To err (meiotically) is human: the genesis of human aneuploidy,” Nature Reviews Genetics, vol. 2, no. 4, pp. 280–291, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. T. J. Hassold and P. A. Jacobs, “Trisomy in man,” Annual Review of Genetics, vol. 18, pp. 69–97, 1984. View at Google Scholar · View at Scopus
  10. K. E. Koehler, R. S. Hawley, S. Sherman, and T. Hassold, “Recombination and nondisjunction in humans and flies,” Human Molecular Genetics, vol. 5, pp. 1495–1504, 1996. View at Google Scholar · View at Scopus
  11. P. Nicolaidis and M. B. Petersen, “Origin and mechanisms of non-disjunction in human autosomal trisomies,” Human Reproduction, vol. 13, no. 2, pp. 313–319, 1998. View at Google Scholar · View at Scopus
  12. M. B. Peterson, M. Frantzen, S. E. Antonarakis et al., “Comparative study of micosatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome,” American Journal of Human Genetics, vol. 51, no. 3, pp. 516–525, 1992. View at Google Scholar
  13. A. R. Savage, M. B. Petersen, D. Pettay et al., “Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans,” Human Molecular Genetics, vol. 7, no. 8, pp. 1221–1227, 1998. View at Google Scholar · View at Scopus
  14. P. W. Yoon, S. B. Freeman, S. L. Sherman et al., “Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosomal error: a population-based study,” American Journal of Human Genetics, vol. 58, no. 3, pp. 628–633, 1996. View at Google Scholar · View at Scopus
  15. M. V. Zaragoza, E. Millie, R. W. Redline, and T. J. Hassold, “Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?” Journal of Medical Genetics, vol. 35, no. 11, pp. 924–931, 1998. View at Google Scholar · View at Scopus
  16. G. C. Franco, P. S. Lucio, F. C. Parra, and S. D. J. Pena, “A probability model for the meiosis I non-disjunction fraction in numerical chromosomal anomalies,” Statistics in Medicine, vol. 22, no. 12, pp. 2015–2024, 2003. View at Publisher · View at Google Scholar · View at Scopus
  17. S. D. J. Pena, “Molecular cytogenetics I: PCR-based diagnosis of human trisomies using computer-assisted laser densitometry,” Genetics and Molecular Biology, vol. 21, no. 3, pp. 317–322, 1998. View at Google Scholar · View at Scopus
  18. R. H. Loschi, J. V. D. Monteiro, and C. S. Souto, “A misclassification model for the non-disjunction fraction in meiosis I,” Biometrical Journal, vol. 50, no. 6, pp. 940–953, 2008. View at Publisher · View at Google Scholar · View at Scopus
  19. V. L. Silva and R. H. Loschi, “Test, estimation and model comparison for the meiosis I nondisjunction fraction in trisomies,” Brazilian Journal of Probability and Statistics, vol. 26, no. 2, pp. 123–148, 2012. View at Publisher · View at Google Scholar
  20. D. L. Hartl and A. G. Clark, Principles of Population in Genetics, Sinauer Associates, Sunderland, UK, 3rd edition, 1997.
  21. B. J. Lorber, M. Grantham, J. Peters, H. F. Willard, and T. J. Hassold, “Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin,” American Journal of Human Genetics, vol. 51, no. 6, pp. 1265–1276, 1992. View at Google Scholar · View at Scopus
  22. R. H. Loschi and G. C. Franco, “Bayesian analysis for the meiosis I non-disjunction fraction in numerical chromosomal anomalies,” Biometrical Journal, vol. 48, no. 2, pp. 220–232, 2006. View at Publisher · View at Google Scholar · View at Scopus