Structural gene for beta-nerve growth factor not defective in familial dysautonomia.
Structural gene for beta-nerve growth factor not defective in familial dysautonomia.
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家族性自主神经功能障碍中β-神经生长因子的结构基因没有缺陷。
DOI：
10.1073/pnas.81.13.4213
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发表时间：
1984
影响因子：
11.1
通讯作者：
A. Ullrich
中科院分区：
文献类型：
--
作者：
X. Breakefield;G. Orloff;C. Castiglione;L. Coussens;F. Axelrod;A. Ullrich
家族性自主神经功能障碍中交感神经节、感觉神经节和某些副交感神经节的神经元发育丧失表明β-神经生长因子（β-NGF）的作用存在遗传缺陷。这种生长因子在自主神经功能障碍中的作用一直难以确定，因为尚无真正的人类 β-NGF 来源。人类 β-NGF 基因的克隆 DNA 探针的出现使得能够在六个受影响的家庭中鉴定出该基因的一些拷贝（等位基因）。等位基因的不同之处在于与基因 DNA 探针杂交的限制性核酸内切酶片段的长度。在两个家庭中，受影响的儿童在 β-NGF 基因座上没有遗传相同的两个等位基因。由于这种疾病以常染色体隐性方式传播，因此受影响的儿童在引起该疾病的基因座上必须具有相同的等位基因。该分析排除了 β-NGF 基因区域作为这种神经系统疾病的原因，但没有排除参与 β-NGF 作用的其他基因，例如编码加工酶、受体或 NGF 复合物其他亚基的基因。
The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human beta-NGF. The availability of a cloned DNA probe for the human beta-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the beta-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the beta-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in beta-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.