Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M
INSERM U406, Faculté de Médecine, Marseille, France.
J Med Genet. 1995 Mar;32(3):231-3. doi: 10.1136/jmg.32.3.231.
Charcot-Marie-Tooth disease type 1A (CMT1A), the most prevalent form of the peripheral hereditary neuropathies, has been associated with a duplication of a genomic segment of 1.5 Mb, located in 17p11.2. Recently, the same segment has been found to be deleted in patients with another peripheral neuropathy, hereditary neuropathy with liability to pressure palsies (HNPP). Highly polymorphic markers are rare in this area, rendering the diagnosis highly dependent either on invasive examinations (like nerve biopsy) or not totally reliable (like gene dosage). Thus, we used a contig of YACs, including the whole region duplicated in CMT1A, to map highly polymorphic microsatellite loci, designed in Genethon. We showed that four of these loci are located in the duplicated region, allowing us to propose them as diagnostic markers for CMT1A and HNPP.
1A型腓骨肌萎缩症（CMT1A）是周围遗传性神经病最常见的类型，与位于17p11.2的一个1.5 Mb基因组片段的重复有关。最近，在另一种周围神经病——遗传性压力易感性麻痹（HNPP）患者中发现该相同片段缺失。该区域高度多态性标记很少，使得诊断高度依赖侵入性检查（如神经活检）或并非完全可靠（如基因剂量分析）。因此，我们使用了一个酵母人工染色体（YAC）重叠群，其包含CMT1A中重复的整个区域，来定位在吉内通公司设计的高度多态性微卫星位点。我们发现其中四个位点位于重复区域，这使我们能够将它们作为CMT1A和HNPP的诊断标记。
