Lupski J R, Wise C A, Kuwano A, Pentao L, Parke J T, Glaze D G, Ledbetter D H, Greenberg F, Patel P I
Institute for Molecular Genetics, Texas Children's Hospital Baylor College of Medicine, Houston 77030.
Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29.
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV. Molecular analysis demonstrated this patient was duplicated for all the DNA markers duplicated in CMT1A as well as markers both proximal and distal to the CMT1A duplication. These data support the hypothesis that the CMT1A phenotype can result from a gene dosage effect.
1型遗传性运动感觉神经病（CMT1A）是人类最常见的遗传性周围神经病，其电生理特征为神经传导速度（NCV）降低。CMT1A与17号染色体短臂近端的大片亚显微DNA重复有关。在本报告中，我们证明了一名细胞遗传学可见重复dup(17)(p11.2p12)的患者NCV降低。分子分析表明，该患者在CMT1A中重复的所有DNA标记以及CMT1A重复近端和远端的标记均出现重复。这些数据支持了CMT1A表型可能由基因剂量效应导致的假说。
