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Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization

✍ Scribed by Boris Zielinski; Sandrine Gratias; Grischa Toedt; Frank Mendrzyk; Daniel E. Stange; Bernhard Radlwimmer; Dietmar R. Lohmann; Peter Lichter

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
118 KB
Volume
43
Category
Article
ISSN
1045-2257

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✦ Synopsis

Abstract

The genetic hallmark of retinoblastoma is mutation or deletion of the RB1 gene, whereas other genetic alterations that are also required are largely unknown. To screen for genomic imbalances on a genomewide level, we studied a series of 17 primary retinoblastomas by matrix‐based comparative genomic hybridization (matrix‐CGH). The matrix‐CGH chip contained 6,000 immobilized genomic DNA fragments covering the human genome, with an average resolution of about 500 kb. The most frequent imbalances detected were gains on chromosome arms 1q (12 of 17), 6p (10 of 17), 2p (5 of 17), and 19q (4 of 17) and loss on 16q (7 of 17). Candidate regions could be narrowed to small intervals by the identified minimally overlapping regions on 1q22, 1q32.1q32.2, 2p24.1, and 6p21.33–p21.31. Furthermore, two as‐yet‐unknown high‐level amplifications were detected, each in a single patient, on chromosome bands 1p34.2 and 1p33. Thus, this study identified new chromosomal regions and therefore potential candidate genes that may play a role in retinoblastoma. © 2005 Wiley‐Liss, Inc.

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