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| 21三体综合征产前基因诊断的研究 | |
| 引用本文： | 王欢,丁显平,聂涌,周晓,代红莹,季文娟. 21三体综合征产前基因诊断的研究[J]. 现代预防医学, 2007, 34(17): 3256-3258 |
| 作者姓名： | 王欢 丁显平 聂涌 周晓 代红莹 季文娟 |
| 作者单位： | 1. 四川大学生命科学学院遗传医学研究所,生物资源与生态环境教育部重点实验室,成都,610064 2. 重庆市急救中心 3. 重庆市第二人民医院 |
| 基金项目： | 四川省重点项目;重庆市自然科学研究项目 |
| 摘 要： | [目的]建立一种准确、快速、简便的21三体综合征即唐氏综合征产前诊断技术,探讨应用串联重复序列信息进行21三体定性诊断的可行性。[方法]抽取109例高风险孕妇羊水,提取DNA,PCR扩增特异性STR片段,并对其进行非变性聚丙烯酰胺凝胶电泳及银染分析,通过电泳带型特征诊断21三体。同时选择17号染色体D17S953作为质控,排除羊水被母血污染造成对结果的影响。[结果]发现异常5例,其中D21S11异常2例,D21S1270异常3例。[结论]基于短串联重复序列（short tandem repeat,STR）的聚合酶链反应技术是一种简单、快速和可靠的21三体定性基因诊断技术,可应用于21三体的基因诊断和遗传筛查。 |
| 关 键 词： | 短串重复序列 21三体 分子诊断 |
| 文章编号： | 1003-8507（2007）17-3256-03 |
| 收稿时间： | 2007-06-20 |
| 修稿时间： | 2007-06-20 |
STUDY ON PRENATAL GENE DIAGNOSIS OF TRISOMY 21 SYNDROME |
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| WANG Huan, DING Xian-ping, NIE Yong,et al.. STUDY ON PRENATAL GENE DIAGNOSIS OF TRISOMY 21 SYNDROME[J]. Modern Preventive Medicine, 2007, 34(17): 3256-3258 | |
| Authors: | WANG Huan DING Xian-ping NIE Yong et al. |
| Affiliation: | Institute of Medical Genetics, School of Life Science, Sichuan University/ Key Laboratory of Bio-resources and Eco-environment, Ministry of Education, Chengdu 610064, China |
| Abstract: | [Objoctive] To establish an accurate, rapid, simple assay for prenatal diagnosis of trisomy 21 syndrome and explore the feasibility of applying STR information in diagnosing trisomy 21 syndrome. [Methods] The DNA samples from 109 patients, with six polymorphic STR served as the gene markers, were amplified by PCR. The STR products were subjected to non-denaturing polyacrylamide gel and analyzed by silver staining of denaturing. [ Results] 5 specimens were detected positive, including 2 abnormal for D21Sll and 3 abnormal for D21S1270. [Conclusions] The present PCR-STR assay can be applied as a simple, rapid and accurate method in the prenatal diagnosis and genetic screening of trisomy 21 syndrome. |
| Keywords: | Short tandem repeats Trisomy 21 Molecular diagnosis |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |