Comparative genomic hybridization: an overview.
Comparative genomic hybridization: an overview.
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比较基因组杂交：概述。
DOI：
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发表时间：
1994
影响因子：
6
通讯作者：
R. Chaganti
中科院分区：
文献类型：
--
作者：
J. Houldsworth;R. Chaganti
比较基因组杂交 (CGH) 是一种新描述的分子细胞遗传学检测，可全面检测基因组补体中染色体的获得和丢失。在该测定中，正常人中期染色体与两个差异标记的基因组 DNA（测试和参考）竞争性杂交，通过荧光显微镜，揭示两个互补体之间 DNA 序列拷贝数变化的染色体位置。将 CGH 应用到从新鲜冷冻标本和各种肿瘤类型细胞系中提取的 DNA 中，揭示了许多传统细胞遗传学分析无法检测到的反复出现的染色体获得和丢失。很少有先前已知的位点被发现具有较高的拷贝数，或者被 CGH 丢失，同时鉴定出许多新的扩增区域。这些区域需要进一步的分子遗传学研究，旨在分离受到干扰的基因。由于 CGH 也可以对从福尔马林固定、石蜡包埋的归档肿瘤标本中提取的 DNA 进行少量修改，因此可以确定原本无法分析的标本的遗传物质的获得和损失。 CGH 对肿瘤标本的前瞻性和回顾性应用将允许进行相关研究，可能确定疾病的诊断和预后指标。 CGH 未来还可能在产前诊断和畸形异常的染色体异常检测和识别方面发挥作用。
Comparative genomic hybridization (CGH) is a newly described molecular-cytogenetic assay that globally assays for chromosomal gains and losses in a genomic complement. In this assay, normal human metaphase chromosomes are competitively hybridized with two differentially labeled genomic DNAs (test and reference), which upon fluorescence microscopy, reveal the chromosomal locations of copy number changes in DNA sequences between the two complements. Application of CGH to DNAs extracted from fresh frozen specimens and cell lines of various tumor types has revealed a number of recurring chromosomal gains and losses that were undetected by traditional cytogenetic analysis. Few previously known sites were found to be in higher copy number, or lost by CGH, while many novel amplified regions were identified. These regions warrant further molecular genetic studies aimed at isolating the perturbed genes. Since CGH can also be performed on DNA extracted from formalin-fixed paraffin-embedded archived tumor specimens with few modifications, gains and losses of genetic material can be determined for specimens that would otherwise be unanalyzable. Prospective and retrospective application of CGH to tumor specimens would permit correlative studies to be performed, possibly identifying diagnostic and prognostic indicators of disease. CGH may also have a future role in detection and identification of chromosomal abnormalities in prenatal diagnosis and in dysmorphic anomalies.
DOI：
10.1073/pnas.91.6.2156
发表时间：
1994-03-15
影响因子：
11.1
作者：
KALLIONIEMI, A;KALLIONIEMI, OP;WALDMAN, FM
通讯作者：
WALDMAN, FM
影响因子：
56.9
作者：
KALLIONIEMI, A;KALLIONIEMI, OP;PINKEL, D
通讯作者：
PINKEL, D