Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization

Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization
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DOI:
10.1016/s0165-4608(01)00427-7
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发表时间:
2001-08-01
影响因子:
--
通讯作者:
Squire, JA
Squire, JA
中科院分区:
其他
文献类型:
--
作者:
Chen, DN;Gallie, BL;Squire, JA

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视网膜母细胞瘤基因(RBI)的两个等位基因的突变在发育中的人类视网膜中启动肿瘤发生,但其他常见的基因组改变存在于肿瘤中。为了亚定位改变的基因组区域,50视网膜母细胞瘤肿瘤进行了检查比较基因组杂交(CGH)。最常见的微小区域是1q31(52%)、6p22(44%)、2p24-p25(30%)和13q32-q34(12%)。最常丢失的最小区域是16q22(14%)。CGH上明显的增益或损失的总数量在具有6p或1q增益的那些肿瘤中显著大于既没有6p也没有1q增益的肿瘤,这表明染色体不稳定性可能与这些变化的获得相关。定位于6p22和1q31的基因可能在RBI等位基因丢失后的视网膜肿瘤发展中起重要作用。(C)2001 Elsevier Science Inc. All rights reserved.
Mutation of both alleles of the retinoblastoma gene (RBI) initiate oncogenesis in developing human retina, but other common genomic alterations are present in the tumors. In order to sublocalize the altered genomic regions, 50 retinoblastoma tumors were examined by comparative genomic hybridization (CGH). The minimal regions most frequent gained were 1q31 (52%) 6p22 (44%), 2p24-p25 (30%) and 13q32-q34 (12%). The minimal region most frequently lost was 16q22 (14%). The overall total number of gains or losses evident on CGH was significantly greater in those tumors with either or both 6p or 1q gain, than in tumors with neither 6p nor 1q gain suggesting that chromosomal instability may be associated with acquisition of these changes. Genes mapping to 6p22 and 1q31 may be important in tumor development in retina subsequent to the loss of RBI alleles. (C) 2001 Elsevier Science Inc. All rights reserved.