Schiavon F, Mostacciuolo M L, Saad F, Merlini L, Siciliano G, Angelini C, Danieli G A
Dipartimento di Biologia, Università di Padova, Italy.
J Med Genet. 1994 Nov;31(11):880-3. doi: 10.1136/jmg.31.11.880.
Charcot-Marie-Tooth disease type 1 (CMT1) is a peripheral neuropathy characterised by progressive distal muscular atrophy and sensory loss with markedly decreased nerve conduction velocity, mostly inherited as an autosomal dominant trait. The most common form, type 1A, is associated with a 1.5Mb DNA duplication in region p11.2-p12 of chromosome 17 in many patients. In this study a non-radioactive test for detection of the CMT1A duplication based on an RM11-GT microsatellite polymorphism is presented. Although different methods have been devised for this purpose, the present method has the advantage of being rapid, informative, economical, easily interpretable, and, therefore, it represents a very useful tool for diagnosis of CMT1A, especially before clear manifestation of clinical symptoms. Seventy-eight patients diagnosed clinically as having CMT and evaluated by electrophysiological methods were tested with an RM11-GT microsatellite and with probe pVAW409R3. The CMT1A duplication was found in 76% of the 56 unrelated patients. RM11-GT was the most informative marker with a heterozygosity of 89%.
1型腓骨肌萎缩症（CMT1）是一种周围神经病变，其特征为进行性远端肌肉萎缩和感觉丧失，神经传导速度显著降低，大多作为常染色体显性性状遗传。最常见的类型1A，在许多患者中与17号染色体p11.2 - p12区域的1.5Mb DNA重复相关。在本研究中，提出了一种基于RM11 - GT微卫星多态性检测CMT1A重复的非放射性检测方法。尽管为此目的已设计出不同方法，但本方法具有快速、信息量大、经济、易于解释的优点，因此，它是诊断CMT1A的非常有用的工具，尤其是在临床症状明显显现之前。对78例临床诊断为CMT并通过电生理方法评估的患者，用RM11 - GT微卫星和探针pVAW409R3进行检测。在56例无亲缘关系的患者中，76%发现有CMT1A重复。RM11 - GT是信息最丰富的标记，杂合度为89%。
