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Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

机译:使用全基因组BAC芯片比较基因组杂交技术分析卵巢腺癌的基因组图谱

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Background Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical comparative genome hybridization techniques are also have their own limitations in detecting genome imbalance especially for small changes that are not known ahead of time and for which FISH probes could not be thus designed. Methods We applied microarray comparative genomic hybridization (A-CGH) using one mega base BAC arrays to investigate chromosomal disorders in ovarian adenocarcinoma in patients with familial history. Results Our data on 10 cases of ovarian cancer revealed losses of 6q (4 cases mainly mosaic loss), 9p (4 cases), 10q (3 cases), 21q (3 cases), 22q (4 cases) with association to a monosomy X and gains of 8q and 9q (occurring together in 8 cases) and gain of 12p. There were other abnormalities such as loss of 17p that were noted in two profiles of the studied cases. Total or mosaic segmental gain of 2p, 3q, 4q, 7q and 13q were also observed. Seven of 10 patients were investigated by FISH to control array CGH results. The FISH data showed a concordance between the 2 methods. Conclusion The data suggest that A-CGH detects unique and common abnormalities with certain exceptions such as tetraploidy and balanced translocation, which may lead to understanding progression of genetic changes as well as aid in early diagnosis and have an impact on therapy and prognosis.
机译:背景技术与正常细胞相比,卵巢癌的常规细胞遗传学研究受到培养失败和癌细胞生长不良的限制。荧光原位杂交(FISH)应用或经典的比较基因组杂交技术在检测基因组失衡方面也有其自身的局限性,特别是对于事先未知的微小变化,因此无法设计FISH探针。方法我们使用一个百万碱基BAC阵列应用微阵列比较基因组杂交(A-CGH)来研究具有家族史的卵巢腺癌的染色体疾病。结果我们关于10例卵巢癌的数据显示,与X染色体单倍体切除相关的6q(4例,主要是镶嵌缺失),9p(4例),10q(3例),21q(3例),22q(4例)丢失。增益为8q和9q(8例同时发生),增益为12p。在研究案例的两个概况中还发现了其他异常,例如17p丢失。还观察到2p,3q,4q,7q和13q的总或镶嵌分段增益。 FISH调查了10例患者中的7例,以控制阵列CGH结果。 FISH数据显示两种方法之间的一致性。结论数据表明,A-CGH可以检测到独特而常见的异常,除了四倍体和平衡易位等某些异常外,这可能有助于了解遗传变化的进展并有助于早期诊断,并影响治疗和预后。

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