脊髓性肌萎缩症患者未受影响的兄弟姐妹中生存运动神经元基因的缺失。
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
作者信息
Cobben J M, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys C H
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
Am J Hum Genet. 1995 Oct;57(4):805-8.
Abstract
DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occurred most frequently in SMA type I. SMN deletions have not yet been described to occur in healthy subjects. In this study, however, four unaffected sibs from two SMA families showed homozygosity for SMN deletions. Homozygosity for an SMN deletion in unaffected persons seems to be very rare. Therefore, demonstration of a homozygous SMN deletion in a clinically presumed SMA patient should be considered as a confirmation of the diagnosis, whether or not SMN is in fact the causal gene for SMA.
摘要
对来自荷兰的103例脊髓性肌萎缩症（SMA）患者进行的DNA研究显示，103例中有96例（93%）存在生存运动神经元（SMN）缺失的纯合性。在103例中有38例（37%）发现神经元凋亡抑制蛋白缺失，且最常出现在I型SMA中。尚未有报道称健康受试者会出现SMN缺失。然而，在本研究中，来自两个SMA家族的4名未受影响的同胞显示出SMN缺失的纯合性。未受影响者中SMN缺失的纯合性似乎非常罕见。因此，在临床疑似SMA患者中证实存在纯合性SMN缺失应被视为诊断的确认，无论SMN实际上是否为SMA的致病基因。
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