| 脊髓性肌萎缩症的基因诊断 |
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| 引用本文： | 丁新生 姚娟. 脊髓性肌萎缩症的基因诊断[J]. 临床神经病学杂志, 1997, 10(6): 330-332 |
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| 作者姓名： | 丁新生 姚娟 |
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| 作者单位： | 美国宾夕法尼亚大学医学中心(丁新生，陈克连)，南京医科大学附一院神经科(姚娟!210029，吴芳玲!210029，沈鸣九!210029，王颖!210029，李弘钧!210029，陈伟贤!210029，侯熙德!210029) |
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| 摘 要： | 我们运用错配 PCR- RFLP方法对脊髓性肌萎缩症 ( SMA)患者和对照组进行了基因诊断的研究。结果发现临床诊断为 SMA的患儿 10例中有 9例出现端粒 SMN基因缺失而确认为阳性 ,1例阴性 ;正常家系成员 2 0例及正常对照组 2 0例均为阴性。此与国外报道相符。该法特异性高、敏感性好 ,实用可靠 ,适用于 SMA的基因诊断和胎儿的产前诊断
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| 关 键 词： | 脊髓性肌萎缩症 基因诊断 PCR-RFLP 基因缺失 |
Genetic diagnosis of spinal muscular atrophy |
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| Ding Xinsheng,Yao Juan,Chen Ke- lian,et al.. Genetic diagnosis of spinal muscular atrophy[J]. Journal of Clinical Neurology, 1997, 10(6): 330-332 |
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| Authors: | Ding Xinsheng Yao Juan Chen Ke- lian et al. |
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| Affiliation: | Ding Xinsheng,Yao Juan,Chen Ke- lian,etal.Deptof Neurology,the First Affiliated H ospital of N anjing 2 1 0 0 2 9 |
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| Abstract: | A new method of mismatching PCR-RFL P was performed in our lab in ge- netic diagnosis of spinal muscular atrophy(SMA) and controls.Our data shows:9cases in 1 0 presumed SMA children are positive,i.e. deletion of telomeric SMN gene.One case is negative.2 0 cases of normal familial members and2 0 cases of normal controls are all nega- tive.Our results matches the criteria and reports of foreign countries.The method we used is highly specific,sensitive and useful and is suittable for genetic diagnosis of SMA and its prenatal diagnosis. |
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| Keywords: | SMA Genetic diagnosis PCR-RFL P Genetic deletion |
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