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| 羊水细胞培养进行脊肌萎缩症的产前诊断 | |
| 引用本文： | 吴婷,丁新生,姚娟,邓晓萱,王秀英,崔建华.羊水细胞培养进行脊肌萎缩症的产前诊断[J].徐州医学院学报,2003,23(2):98-100. |
| 作者姓名： | 吴婷 丁新生 姚娟 邓晓萱 王秀英 崔建华 |
| 作者单位： | 1. 南京医科大学第一附属医院神经内科,江苏,南京,210029 2. 徐州医学院附属医院中心实验室,江苏,徐州,221002 3. 徐州医学院附属医院B超室 |
| 基金项目： | 江苏省教委自然科学基金 (JW970 0 91 )，江苏省科委应用基金资助项目 (BJ980 0 83) |
| 摘 要： | 目的 应用错配聚合酶链反应-限制性片断长度多态性（PCR-RFLP）方法进行脊肌萎缩症（spinal muscular atrophy,SMA)的产前诊断。方法 基于运动神经元生存基因（SMN）的两个同源拷贝碱基的差异，通过羊水细胞培养，应用错配PCR-RFLP法对2例有SMA阳性家族史的胎儿进行产前基因诊断。结果 2例均无SMN基因外显子缺失。结论 SMN基因缺失检测技术是高效、快速的SMA产前诊断的方法。 |
| 关 键 词： | 脊肌萎缩症 神经元生存基因 产前诊断 羊水细胞 |
| 文章编号： | 1000-2065(2003)02-0098-03 |
Prenatal diagnosis of spinal muscular atrophy based on amniotic fluid cells culturing |
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| WU Ting,DING Xin-sheng,YAO Juan,et al.Prenatal diagnosis of spinal muscular atrophy based on amniotic fluid cells culturing[J].Acta Academiae Medicinae Xuzhou,2003,23(2):98-100. | |
| Authors: | WU Ting DING Xin-sheng YAO Juan |
| Abstract: | Objective To study the diagnostic value of mis-matching polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for spinal muscular atrophy (SMA).?Methods Prenatal examination for SMA was performed in 2 fetuses with SMA family history by using the technique of PCR-RFLP based on the difference between the two homologous copies of survival motor neuron gene (SMN).?Results No deletion of SMN exogenote was found in the two cases, ruling out the diagnosis of SMA. The result was confirmed by the normal conditions of the one baby soon born after the test.?Conclusion Detecting the deletion of SMN is an efficient and rapid method of prenatal diagnosis for SMA. |
| Keywords: | spinal muscular atrophy survival motor neutron gene prenatal diagnosis amniotic fluid cells |
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