| 成年起病脊肌萎缩症SMN基因外显子7缺失的初探 |
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| 引用本文： | 金荣祥,吕立夏,靳令经,王尧. 成年起病脊肌萎缩症SMN基因外显子7缺失的初探[J]. 现代医学, 2001, 29(1): 20-22 |
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| 作者姓名： | 金荣祥 吕立夏 靳令经 王尧 |
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| 作者单位： | 1. 同济大学附属同济医院神经内科,
2. 同济大学医学院生物化学教研室, |
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| 摘 要： | 目的探讨成年起病的脊肌萎缩症(SMA)患者的运动神经元存活基因SMN的缺失情况。方法用聚合酶链反应-酶切技术对15例SMA病人及33例正常对照的外显子7进行检测，明确有无缺失。结果3例SMA的SMN基因外显子7纯合缺失，其余12例和对照组均阴性。结论SMN基因外显子7缺失可作为成年起病SMA的辅助诊断，以提示SMA遗传的异质性。
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| 关 键 词： | 脊肌萎缩症；运动神经元存活基因；聚合酶链反应；外显子7 |
| 文章编号： | 1001-0912(2001)01-0020-03 |
| 修稿时间： | 2000-07-06 |
Preliminary study onsurvival motor neuron gene deletion of exon 7 in adult-onset patients with spinal muscularatrophy |
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| JIN Rong-xiang,LU Li-xia,JIN Ling-jing,WANG Yao. Preliminary study onsurvival motor neuron gene deletion of exon 7 in adult-onset patients with spinal muscularatrophy[J]. Modern Medical JOurnal, 2001, 29(1): 20-22 |
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| Authors: | JIN Rong-xiang LU Li-xia JIN Ling-jing WANG Yao |
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| Abstract: | Objective To study survival motor neuron (SMN) deletion in adult onset patients with spinal muscular atrophy (SMA).Methods Exon 7 of SMN was detected in 15 cases with SMA and 33 cases of normal control with polymerase chain reaction restriction enzyme digestion analysis.Results Homozyous deletion of exon 7 occurred in 3 case with SMA, while negative result were in the other.Conclusion Genetic heterogeneity of SMA among those cases with adult onset beyond age 30 could not be ruled out. |
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| Keywords: | spinal muscular atrophy survival motor neuron polymerase chain reaction exon 7 |
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