脊髓性肌萎缩症患者运动神经元存活（SMN）和神经元凋亡抑制蛋白（NAIP）基因缺失的生存研究。
Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.
作者信息
Kesari Akanchha, Misra Usha Kant, Kalita Jayantee, Mishra Vijay Nath, Pradhan Sunil, Patil Siddramappa Jagdish, Phadke Shubha Rajender, Mittal Balraj
机构信息
Dept. of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226014, India.
出版信息
J Neurol. 2005 Jun;252(6):667-71. doi: 10.1007/s00415-005-0714-2. Epub 2005 Mar 18.
In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in Indian SMA patients. Clinically and neurophysiologically diagnosed SMA patients were included in the study. A gene deletion study was carried out in 45 proximal SMA patients and 50 controls of the same ethnic group. Both SMN1 and NAIP genes showed homozygous absence in 76% and 31% respectively in proximal SMA patients. It is proposed that the lower deletion frequency of SMN1 gene in Indian patients may be due to mutations present in other genes or population variation, which need further study.
鉴于针对印度脊髓性肌萎缩症（SMA）患者运动神经元存活（SMN）和神经元凋亡抑制蛋白（NAIP）基因缺失的研究较少，开展了本研究以确定印度SMA患者中SMN1、SMN2和NAIP基因缺失的情况。临床和神经生理学诊断为SMA的患者被纳入研究。对45例近端SMA患者和50例同种族对照进行了基因缺失研究。在近端SMA患者中，SMN1和NAIP基因纯合缺失分别为76%和31%。有观点认为，印度患者中SMN1基因较低的缺失频率可能是由于其他基因存在突变或人群差异，这需要进一步研究。
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