微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝 .DOC

微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化的实验研究 张艳亮1，戴勇1，2，涂植光1，李启运2，吴瑛2，曾君2，林秀华2，张丽2 （1重庆医科大学，教育部临床检验诊断学重点实验室，重庆400016， 2暨南大学第二临床医学院（深圳市人民医院），深圳518082） 提 要：目的 了解18q等臂双着丝粒染色体[idic(18)(p11→qter)]胎儿全基因组拷贝数变化的情况，确定idic(18)(p11→qter)的结构和组成，探讨微阵列比较基因组杂交在分子细胞遗传诊断中运用的可行性和优越性。方法 运用微阵列比较基因组杂交芯片对一被传统G显带和荧光原位杂交诊断为idic(18)(p11→qter)的胎儿进行全基因组高分辩率扫描和分析。结果 微阵列比较基因组杂交显示胎儿存在18p11.21→pter缺失，18p11.21→qter复制，断裂点位12145199（距离18p端粒），确定idic(18)(p11→qter)是idic(18)(p11.21→qter)。另外，还检测出了21个亚显微拷贝数变化。结论 与传统的细胞遗传分析方法相比，微阵列比较基因组杂交不仅能准确、高分辩率和高通量地检测出基因组拷贝数变化，还能高分辩率地确定拷贝数变化的断裂点。 关键词： 微阵列比较基因组杂交；18等臂双着丝粒染色体；拷贝数变化 中图分类号: R394-3 Experimental study of whole genomic copy number variations in a fetus with a de novo isodicentric chromosome 18 by array-based comparative genomic hybridization ZHANG Yan-liang1, DAI Yong1, 2, TU Zhi-guang1, LI Qi-yun2, WU Ying2, ZENG Jun2, LIN Xiu-hua2, ZHANG Li2 (1Key Laboratory of Laboratory Medical Diagnostics, Ministry of Education, Chongqing Medical University, Chongqing 400016, China, 2The Second Clinical Medical College (Shenzhen People’s Hospital), Jinan University, Shenzhen 518020, China) Abstract: Objective To understand genomic copy number variations(CNVs) in a fetus with a de novo isodicentric chromosome 18q[idic(18)(p11→qter)], identify organization and components of the idic(18)(p11→qter), and investigate possibility and superiority of array-based comparative genomic hybridization(array-CGH) in molecular cytogenetic diagnosis. Methods The whole genome of a fetus with idic(18)(p11→qter) diagnosed by G-banding and fluorescence in situ hybridization was scanned and analysed by array-CGH. Results The results of array-CGH showed deletion of 18p11.21→pter and duplication of 18p11.21→qter, the breakpoint was betweenandfrom the telomere of 18p), which indicated the idic(18)(p11→qter) was idic(18)(p11.21→qter) actually. Further more, 21 submicroscopic genomic CNVs were identified. Conclusion Comparing with conventional cytogenetic analysis, array