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| 引物原位标记技术在21-三体综合征诊断中的应用 | |
| 引用本文： | 李丰,金润铭,尉庭华,刘智胜,张晓珍,余慧,林雯,贺艳丽. 引物原位标记技术在21-三体综合征诊断中的应用[J]. 中国妇幼保健, 2006, 21(1): 113-115 |
| 作者姓名： | 李丰 金润铭 尉庭华 刘智胜 张晓珍 余慧 林雯 贺艳丽 |
| 作者单位： | 1. 华中科技大学同济医学院附属协和医院儿科,430022 2. 武汉市儿童医院 3. 江西省儿童医院中心实验室 4. 华中科技大学同济医学院附属协和医院干细胞中心 |
| 基金项目： | 国家自然科学基金(NO.30270727) |
| 摘 要： | 目的:探索快速诊断21-三体综合征的新方法。方法:应用21号染色体特异性引物对30例智力低下儿童外周血淋巴细胞标本进行引物原位标记(prim ed in situ labeling,PR INS),同时与传统细胞遗传学核型分析技术进行比较。结果:在间期核和中期分裂相中,PR INS技术均能特异性地检测出21号染色体。在11例21-三体综合征患儿标本中,21号染色体标记率平均为89%;在19例非21-三体综合征患儿标本中,21号染色体标记率平均为93%。荧光杂交信号清晰,整个检测反应在24 h内完成。结论:引物原位标记技术可快速、准确地检测21号染色体的数目异常,有助于对传统细胞遗传学检测方法的验证和补充。 |
| 关 键 词： | 引物原位标记 21-三体综合征 |
| 文章编号： | 1001-4411（2006）01-0113-03 |
| 修稿时间： | 2005-11-20 |
The use of the primed in situ labeling technique in the diagnosis of 21-trisomy syndrome |
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| LI Feng , JIN Run - Ming , WEI Ting - Hua,et al.. The use of the primed in situ labeling technique in the diagnosis of 21-trisomy syndrome[J]. Maternal and Child Health Care of China, 2006, 21(1): 113-115 | |
| Authors: | LI Feng JIN Run - Ming WEI Ting - Hua et al. |
| Affiliation: | Department of Paediatrics , Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430022, Hubei, China |
| Abstract: | Objective:To explore a new rapid method for the diagnosis of 21-trisomy syndrome.Methods:The primed in situ labeling(PRINS) reactions with chromosome 21 specific primer were performed on 30 peripheral lymphocyte samples of mental retardation children comparing with chromosome karyotype analysis.Results:The specific chromosomes' signals were obtained from PRINS on both metaphase and interphase nuclei.In the samples of 21-trisomy,an average of 89 percent had displayed 3 labeling signals,in the samples of non-21-trisomy,an average of 93 percent had displayed 2 labeling signals.Conclusion:PRINS is a rapid and specific method for the detection of chromosome 21 ameuploidy. |
| Keywords: | Primed in situ labeling 21-trisomy syndrome |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |