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J Med Genet 2005;42:847-851 doi:10.1136/jmg.2005.032367
  • Original article

Global analysis of uniparental disomy using high density genotyping arrays

  1. S Bruce1,
  2. R Leinonen1,
  3. C M Lindgren1,2,
  4. K Kivinen1,
  5. K Dahlman-Wright1,
  6. M Lipsanen-Nyman3,
  7. K Hannula-Jouppi4,
  8. J Kere1,2,4
  1. 1Department of Biosciences at Novum, Karolinska Institutet, 14157 Huddinge, Sweden
  2. 2Clinical Research Centre, Karolinska University Hospital at Huddinge, Sweden
  3. 3Hospital for Children and Adolescents, Helsinki University Hospital, Helsinki, Finland
  4. 4Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland
  1. Correspondence to:
 Dr Ju Kere
 Department of Biosciences at Novum, CBT, 7th Floor, Karolinska Institutet, S-14157 Huddinge, Sweden; juha.kerebiosci.ki.se
  • Received 24 February 2005
  • Accepted 5 May 2005
  • Revised 25 April 2005
  • Published Online First 6 May 2005

Abstract

Background: Uniparental disomy (UPD), the inheritance of both copies of a chromosome from a single parent, has been identified as the cause for congenital disorders such as Silver-Russell, Prader-Willi, and Angelman syndromes. Detection of UPD has largely been performed through labour intensive screening of DNA from patients and their parents, using microsatellite markers.

Methods: We applied high density single nucleotide polymorphism (SNP) microarrays to diagnose whole chromosome and segmental UPD and to study the occurrence of continuous or interspersed heterodisomic and isodisomic regions in six patients with Silver-Russell syndrome patients who had maternal UPD for chromosome 7 (matUPD7).

Results: We have devised a new high precision and high-throughput computational method to confirm UPD and to localise segments where transitions of UPD status occur. Our method reliably confirmed and mapped the matUPD7 regions in all patients in our study.

Conclusion: Our results suggest that high density SNP arrays can be reliably used for rapid and efficient diagnosis of both segmental and whole chromosome UPD across the entire genome.

Footnotes

  • The first two authors contributed equally to this work.

  • Competing interests: none declared

This Article

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    1. jmg.2005.032367v1
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