Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

Research output: Contribution to journalJournal articleResearchpeer-review

  • Teresita Díaz de Ståhl
  • Johanna Sandgren
  • Arkadiusz Piotrowski
  • Helena Nord
  • Andersson, Robin
  • Uwe Menzel
  • Adam Bogdan
  • Ann-Charlotte Thuresson
  • Andrzej Poplawski
  • Desiree von Tell
  • Caisa M Hansson
  • Amir I Elshafie
  • Gehad Elghazali
  • Stephan Imreh
  • Magnus Nordenskjöld
  • Meena Upadhyaya
  • Jan Komorowski
  • Carl E G Bruder
  • Jan P Dumanski
To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (CGH) to a BAC array covering the human genome, using DNA extracted from peripheral blood, thus avoiding any culture-induced rearrangements. By applying a newly developed computational algorithm based on Hidden Markov modeling, we identified 1,078 autosomal CNVs, including at least two neighboring/overlapping BACs, which represent 315 distinct regions. The average size of the sequence polymorphisms was approximately 350 kb and involved in total approximately 117 Mb or approximately 3.5% of the genome. Gains were about four times more common than deletions, and segmental duplications (SDs) were overrepresented, especially in larger deletion variants. This strengthens the notion that SDs often define hotspots of chromosomal rearrangements. Over 60% of the identified autosomal rearrangements match previously reported CNVs, recognized with various platforms. However, results from chromosome X do not agree well with the previously annotated CNVs. Furthermore, data from single BACs deviating in copy number suggest that our above estimate of total variation is conservative. This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics.
Original languageEnglish
JournalHuman Mutation
Volume29
Issue number3
Pages (from-to)398-408
Number of pages11
ISSN1059-7794
DOIs
Publication statusPublished - Mar 2008
Externally publishedYes

    Research areas

  • African Continental Ancestry Group, Algorithms, Asian Continental Ancestry Group, Chromosomes, Artificial, Bacterial, Chromosomes, Human, X, Continental Population Groups, European Continental Ancestry Group, Female, Gene Dosage, Gene Duplication, Gene Rearrangement, Genetic Variation, Genome, Human, Humans, Male, Markov Chains, Oligonucleotide Array Sequence Analysis

ID: 106776343