De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin J J, Van Broeckhoven C
Department of Molecular Genetics, University of Antwerpen (UIA), Belgium,
Ann N Y Acad Sci. 1999 Sep 14;883:389-96.
The inherited neuropathies of the peripheral nervous system are clinically and genetically a heterogeneous group of disorders. Molecular genetic studies have made major breakthroughs in unraveling the underlying gene defects, and DNA diagnosis can now be offered to a large number of families with distinct forms of hereditary peripheral neuropathies. With the currently available technology, however, molecular genetic diagnosis still remains a labor-intensive and costly procedure. We have developed an algorithm for mutation screening based on clinical phenotype, electrophysiological findings, and the relative frequencies of mutations in the distinct peripheral myelin genes.
外周神经系统的遗传性神经病在临床和遗传方面是一组异质性疾病。分子遗传学研究在揭示潜在基因缺陷方面取得了重大突破，现在可以为大量患有不同形式遗传性周围神经病的家庭提供DNA诊断。然而，就目前可用的技术而言，分子遗传学诊断仍然是一个劳动密集型且成本高昂的程序。我们已经开发出一种基于临床表型、电生理检查结果以及不同外周髓磷脂基因中突变相对频率的突变筛查算法。
