Hryshchenko N V, Bychkova A M, Pichkur N A, Skyban H V, Dmytrenko V V, Livshyts' L A
Tsitol Genet. 2003 Nov-Dec;37(6):55-9.
Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1.5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
夏科-马里-图斯神经病（CMT）是最常见的遗传性疾病之一，发病率为1:2500。CMT是一组异质性疾病，其特征为慢性周围运动和感觉神经病变。我们利用位于重复区域的两个（CA）n多态性微卫星位点17S921和17S1358，对常染色体显性CMT1患者及其亲属进行了17p11.2 - 12染色体区域1.5 Mb CMT1A串联重复的检测。在五个常染色体显性CMT1家族中，有三个家族发现了CMT1A重复。研究表明，CMT1A重复分析对于CMT的早期鉴别诊断非常重要，包括高危家庭的产前诊断和遗传咨询。
