The neuroblastoma genome Studies of genomic alterations using copy number microarray analyzes

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The neuroblastoma genome Studies of genomic
alterations using copy number microarray analyzes

• Tommy MartinssonDepartment of Clinical Genetics
  
• Sahlgrenska University Hospital
• University of Gothenburg
• Gothenburg, Sweden

NBCNS meeting - Solbacka Sept 19, 2008
tommy.martinsson_at_gu.se
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(No Transcript)
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Normal ctrl.
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1p deletion
MYCN amplification
17q gain
NBL case
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1p deletion in two NBL cases
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Three NBL cases with MYCN amplification
MYCN
ALK
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For more information on our NBL arrayCGH data
set, see recent publication Carén et al., BMC
Genomics. 2008 9353.
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Three NBL cases NMA few additional structural
changes
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Three NBL cases No structural aberrations - only
numerical changes
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A few omitted slides - data will be submitted
for publication soon
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SNP arrays enable us to

• 
  
  Comparison
• with classic
• 
  aCGH
• Measure the gene dosage for each SNP locus
  ?
• Identifes the genotype call for each of e.g. 250k
  SNP loci -
• A/A A/B B/B
• Given 1 and 2 differences in allele intensity
  can be estimated -
• e.g. more detailed detection of loss A/-
  B/- -
• allelic imbalance e.g. A/A/B
  -
• copy neutral LOH N A/B T A/A
  -

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Copy neutral LOH in chromosome 14 in NBL cell
line SK-N-SH
LOH
CN-LOH
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NBL case
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3
2
1
14
NBL case
4
3
2
1
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NBL case
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3
2
1
1
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LOH
LOH
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NBL case
Comparison
4
3
2
1
1
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LOH
LOH
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• We like to collaborate !
• Research
• Clincal diagnostics
• Contact tommy.martinsson_at_gu.se

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Acknowledgements

• Helena Carén
• Hannah Kryh
• Linda Olsson
• Jennie Erichsen
• Rose-Marie Sjöberg
• Cecilia Krona
• Katarina Ejeskär
• Susanne Fransson
• Frida Abel
• Catarina Darnfors
• Ylva Oleskog
• Maria Nethander
• Staffan Nilsson
• Jonas Abrahamsson
• Per Kogner