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应用2种方法检测脊肌萎缩症运动神经元生存基因1缺失 被引量：1

Detection of the SMN1 deletion by two techniques
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摘要 目的:探讨脊肌萎缩症的基因诊断方法。方法:基于运动神经元生存基因的2个同源拷贝碱基上的差异,应用PCR-酶切和等位基因特异性PCR对8例脊肌萎缩症患者与其直系亲属及10例正常对照者对照进行脊肌萎缩症基因第7外显子缺失检测。结果:PCR-酶切和等位基因特异性PCR均显示8例脊肌萎缩症患者运动神经元生存基因第7号外显子缺失,正常对照组及患者亲属未发现缺失。结论:PCR-酶切结合等位基因特异性PCR是可靠的运动神经元生存基因缺失检测方法,提高了脊肌萎缩症基因诊断的准确性。 Objective To investigate and establish the gene diagnosis method for spinal muscular atrophy. Methods Eight patients with spinal muscular atrophy and their consanguineous relatives and 10 control individuals were detected for the deletion in the survival motor neuron gene by PCR- restriction enzyme digestion and allele specific PCR based on the difference between the two homologous copies of survival motor neuron. Results Exon 7 of survival motor neuron 1 was deleted in 8 patients by the two techniques. The control individuals and 8 cases of consanguineous relatives did not exhibit the deletion. Conclusion The combination of PCR-RFLP and allele specific PCR offers an efficient and accurate method for molecular diagnosis of spinal muscular atrophy.
作者 王莉 康冰 王涛 方东 廖世秀 王应太
机构地区 河南省人民医院遗传研究所
出处 《中华实用诊断与治疗杂志》 2009年第11期1059-1061,共3页 Journal of Chinese Practical Diagnosis and Therapy
基金 2005年河南省医学科技创新人才工程项目(87)
关键词 脊肌萎缩症 运动神经元生存基因 等位基因特异性扩增 Spinal muscular atrophy survival motor neuron allele specific amplification
分类号 R746.4 [医药卫生—神经病学与精神病学]
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参考文献14

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共引文献10

同被引文献12

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中华实用诊断与治疗杂志
2009年 第11期

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