应用多色引物原位标记技术在未培养羊水细胞中同时识别18号、X和Y染色体  

Application of multicolor primed in situ labeling in simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes

作　　者：邓莉 丁显平[1] 聂涌 胡誉 任洪进 

机构地区：[1]生物资源与生态环境教育部重点实验室,四川大学生命科学学院遗传医学研究所,成都610064 [2]四川省成都市妇幼保健院

出　　处：《中华医学遗传学杂志》2009年第4期439-442,共4页Chinese Journal of Medical Genetics

摘　　要：目的建立多色引物原位标记（multi-primed in situ labelling）技术在未培养羊水细胞中检测染色体数目异常。方法用非双膜氧核苷酸阻断的三色引物原位标记技术对未培养羊水细胞中的18、x和Y染色体同时进行标记。结果成功地在69份未培养羊水细胞间期核中检测到相应的染色体信号，且结果与培养羊水细胞的染色体制备分析及其三色引物原位标记相符合，反应成功率达96％，标记率达85％。结论该研究方法提高了检测通量，快速、简便、经济可行，值得进一步研究与推广。Objective To establish a multicolor primed in situ labeling （PRINS） protocol for chromosome detection in uncultured amniocytes. Methods Chromosomes 18, X and Y in uncultured amniocytes were simultaneously detected by using the non ddNTP-blocking multicolor PRINS procedure. Results Within 7 h, the 3 chromosomes were simultaneously marked in the same uncultured amniocyte. The chromosome signals were successfully detected in 69 uncultured samples of amniotic fluid. The results were consistent with that obtained by chromosomes in cultured amniocytes. Conclusion This multicolor protocol was high throughput, fast, simple, sensitive and reliable in diagnosing chromosome abnormalities in uncultured amniocytes.

关 键 词：多色引物原位标记 未培养羊水细胞 染色体 产前诊断 

分 类 号：R686[医药卫生—骨科学]