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染色体微缺失、重复、扩增和非整倍体等基因组DNA失衡是导致胎儿发育迟缓、畸形、死胎、流产和其他先天性疾病的内在原因。微阵列-比较基因组杂交技术(Array CGH)利用基因芯片取代了传统比较基因组杂交技术的正常中期染色体作为杂交靶标,与分别采用不同荧光标记的待测DNA和参照DNA杂交,通过比较两种荧光强度的比率,检测出染色体基因拷贝数变化。Array CGH已成为一个重要的细胞遗传学研究工具,用于产前诊断和先天性疾病诊断染色体亚显微结构异常。
Genomic DNA imbalances such as chromosomal microdeletion, duplication, amplification, and aneuploidy are the underlying causes of fetal retardation, deformity, stillbirth, miscarriage and other congenital diseases. Microarray-comparative genomic hybridization (Array CGH) uses the gene chip to replace the normal metaphase chromosome of the traditional comparative genomic hybridization technique as a hybridization target and hybridizes with the tested DNA and the reference DNA respectively using different fluorescent markers. By comparing the two fluorescence intensities The rate of chromosomal gene copy number changes was detected. Array CGH has become an important cytogenetic research tool for the diagnosis of chromosomal sub-microstructural abnormalities in prenatal diagnosis and in congenital diseases.