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成年起病脊肌萎缩症SMN基因外显子7缺失的初探
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
作者姓名:金荣祥  吕立夏  靳令经  王尧
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,
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。

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
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
Authors:JIN Rong-xiang  LU Li-xia  JIN Ling-jing  WANG Yao
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.
Keywords:spinal muscular atrophy  survival motor neuron  polymerase chain reaction  exon 7
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