目前,G显带染色体核型分析技术仍然是细胞遗传学产前诊断的“金标准”,但该技术具有细胞培养耗时长、分辨率低以及耗费人力的局限性.包括荧光原位杂交（fluorescence in situ hybridization,FISH）技术在内的快速产前诊断技术的引入虽...目前,G显带染色体核型分析技术仍然是细胞遗传学产前诊断的“金标准”,但该技术具有细胞培养耗时长、分辨率低以及耗费人力的局限性.包括荧光原位杂交（fluorescence in situ hybridization,FISH）技术在内的快速产前诊断技术的引入虽然具有快速及特异性高的优点,但还不能做到对染色体组的全局分析.染色体微阵列分析（chromosomal microarray analysis,CMA）技术又被称为“分子核型分析”,能够在全基因组水平进行扫描,可检测染色体不平衡的拷贝数变异（copy number variant,CNV）,尤其是对于检测染色体组微小缺失、重复等不平衡性重排具有突出优势.展开更多
致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断...致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断领域得到了广泛的应用。为规范这类技术的临床应用,我们制订了将CNV检测应用于产前诊断的指南,内容主要包括开展CNV分析进行产前诊断的基本要求、适用范围、临床检测及咨询流程、检测技术流程等,以更好地为患者服务。展开更多
Objective： To identify differentially expressed long non-coding RNAs （lncRNAs） involved in the metastasis of epithelial ovarian cancer. Methods： An in vitro invasion assay was performed to validate the invasive ca...Objective： To identify differentially expressed long non-coding RNAs （lncRNAs） involved in the metastasis of epithelial ovarian cancer. Methods： An in vitro invasion assay was performed to validate the invasive capability of SKOV3 and SKOV3.ip1 cell lines. Total R.NA was then extracted, and microarray analysis was performed. Moreover, nine lncRNAs were selected for validation using RT-qPCR. Results： Compared with the SKOV3 cells, the SKOV3.ip1 cells significantly improved in the in vitro invasive activity. Of the 4,956 lncRNAs detected in the microarra~ 583 and 578 lncRNAs were upregulated and downregulated, respectivel~ in SKOV3.ip1 cells, compared with the parental SKOV3 cells. Seven of the analyzed lncRNAs （MALAT1, H19, UCA1, CCAT1, LOC645249, LOC100128881, and LOC100292680） confirmed the deregulation found by microarray analysis. Conclusion： LncRNAs clusters were differentially expressed in ovarian cancer cells with varying metastatic potentials. This result indicates that some lncRNAs might exert a partial or key role in epithelial ovarian cancer metastasis. Further studies should be conducted to determine the roles of these lncRNAs in ovarian cancer metastasis.展开更多
染色体微阵列分析（chromosome microarrayanalysis，CMA）技术是一种高分辨率、高通量检测人类基因组DNA拷贝数变异（copy number variant，CNV）的分子核型分析技术。CNV是指长度≥1kb的DNA片段[1]，约15％的人类遗传病由基因组CNV引...染色体微阵列分析（chromosome microarrayanalysis，CMA）技术是一种高分辨率、高通量检测人类基因组DNA拷贝数变异（copy number variant，CNV）的分子核型分析技术。CNV是指长度≥1kb的DNA片段[1]，约15％的人类遗传病由基因组CNV引起[2]。展开更多
文摘目前,G显带染色体核型分析技术仍然是细胞遗传学产前诊断的“金标准”,但该技术具有细胞培养耗时长、分辨率低以及耗费人力的局限性.包括荧光原位杂交（fluorescence in situ hybridization,FISH）技术在内的快速产前诊断技术的引入虽然具有快速及特异性高的优点,但还不能做到对染色体组的全局分析.染色体微阵列分析（chromosomal microarray analysis,CMA）技术又被称为“分子核型分析”,能够在全基因组水平进行扫描,可检测染色体不平衡的拷贝数变异（copy number variant,CNV）,尤其是对于检测染色体组微小缺失、重复等不平衡性重排具有突出优势.
文摘致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断领域得到了广泛的应用。为规范这类技术的临床应用,我们制订了将CNV检测应用于产前诊断的指南,内容主要包括开展CNV分析进行产前诊断的基本要求、适用范围、临床检测及咨询流程、检测技术流程等,以更好地为患者服务。
文摘Objective： To identify differentially expressed long non-coding RNAs （lncRNAs） involved in the metastasis of epithelial ovarian cancer. Methods： An in vitro invasion assay was performed to validate the invasive capability of SKOV3 and SKOV3.ip1 cell lines. Total R.NA was then extracted, and microarray analysis was performed. Moreover, nine lncRNAs were selected for validation using RT-qPCR. Results： Compared with the SKOV3 cells, the SKOV3.ip1 cells significantly improved in the in vitro invasive activity. Of the 4,956 lncRNAs detected in the microarra~ 583 and 578 lncRNAs were upregulated and downregulated, respectivel~ in SKOV3.ip1 cells, compared with the parental SKOV3 cells. Seven of the analyzed lncRNAs （MALAT1, H19, UCA1, CCAT1, LOC645249, LOC100128881, and LOC100292680） confirmed the deregulation found by microarray analysis. Conclusion： LncRNAs clusters were differentially expressed in ovarian cancer cells with varying metastatic potentials. This result indicates that some lncRNAs might exert a partial or key role in epithelial ovarian cancer metastasis. Further studies should be conducted to determine the roles of these lncRNAs in ovarian cancer metastasis.
文摘染色体微阵列分析（chromosome microarrayanalysis，CMA）技术是一种高分辨率、高通量检测人类基因组DNA拷贝数变异（copy number variant，CNV）的分子核型分析技术。CNV是指长度≥1kb的DNA片段[1]，约15％的人类遗传病由基因组CNV引起[2]。
