Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

阵列 CGH 和多点 FISH 解码复杂的染色体重排

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作者:Eva Darai-Ramqvist, Teresita Diaz de Ståhl, Agneta Sandlund, Kiran Mantripragada, George Klein, Jan Dumanski, Stefan Imreh, Maria Kost-Alimova

Background

Recently, several high-resolution

Conclusion

In most cases, the changes in copy number seen on array-CGH profiles reflected cumulative chromosome rearrangements. Most of them stemmed from unbalanced translocations. Although our chr3 BAC/PAC array could identify single copy number changes even in pentaploid cells, mpFISH provided a more accurate analysis in the dissection of complex karyotypes at high ploidy levels.

Results

The ploidy of the tumour cell lines ranged from near-diploid to near-pentaploid. Chr3 locus copy number was assessed by interphase and metaphase mpFISH. Totally 53 chr3 fragments were identified having copy numbers from 0 to 14. MpFISH results from the BAC/PAC clones and array-CGH gave mainly corresponding results. Each copy number change on the array profile could be related to a specific chromosome aberration detected by metaphase mpFISH. The analysis of the correlation between real copy number from mpFISH and the average normalized inter-locus fluorescence ratio (ANILFR) value detected by array-CGH demonstrated that copy number is a linear function of parameters that include the variable, ANILFR, and two constants, ploidy and background normalized fluorescence ratio.

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