先天性疾病研究及产前诊断中Array CGH的应用

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。

The Application of Array CGH in Congenital Anomalies Research and Prenatal Diagnosis

Fetal hypoevolutism, abnormity, fetal death, miscarriage and other congenital anomalies are due to some internal reasons, e.g chromosome micro deletion, repeat, aneuploid and so on. Array comparative genomic hybridization （Array CGH） uses array to replace traditional metaphase chromosome as target crossing to samples and reference DNA labeled by different fluorescence, and the copy number alterations are detected by analysis of different fluorescence intensity. Array CGH is a powerful tool for cytogenetical study, and it has been used in prenatal diagnosis and congenital anomalies research for abnormal microarchitecture.