Xiao J, Tang B, Xia J
Department of Neurology, Xiangya Hospital, Zhongnan University, Changsha 410008, China.
Zhonghua Yi Xue Za Zhi. 2001 Feb 10;81(3):138-41.
To establish the gene diagnosis of chavcot-Marie-Tooth disease (CMT) by (PCR) polymerase chain reaction and to study the molecular genetic characteristics of the Chinese CMT.
Mutation analysis of the Cx32, MPZ and PMP22 genes were performed by PCR-RFLP, PCR-SSCP, PCR-DGGE and/or direct sequencing in 32 CMT probands of the Hans in China.
21.9% of the CMT pedigrees had mutations in the Cx32, MPZ and PMP22 genes. Ten kinds of abnormal bands were found by PCR-SSCP, including 5 kinds of polymorphism and 5 point mutations in the exons of the gene (4 of the Cx32 and 1 of the MPZ). No point mutation of the PMP22 gene was found in these patients but two families (6.3%) were diagnosed as CMT1A by the PCR-RFLP, with the tandem repeat mutation of 1.5 Mb including the PMP22 gene.
PCR-SSCP and PCR-RFLP are the first two screening methods in the gene diagnosis of CMT. PCR-DGGE is not appropriate for mutation analysis of Cx32. The point mutations must be certificated by sequencing. The mutation screening in the possible X-linkage family has to start with Cx32 gene.
通过聚合酶链反应（PCR）建立夏科-马里-图斯病（CMT）的基因诊断方法，并研究中国CMT患者的分子遗传学特征。
采用PCR-RFLP、PCR-SSCP、PCR-DGGE和/或直接测序技术，对32例中国汉族CMT先证者的Cx32、MPZ和PMP22基因进行突变分析。
21.9%的CMT家系在Cx32、MPZ和PMP22基因中存在突变。通过PCR-SSCP发现10种异常条带，包括5种多态性和5个基因外显子的点突变（Cx32基因4个，MPZ基因1个）。这些患者中未发现PMP22基因的点突变，但通过PCR-RFLP诊断出2个家系（6.3%）为CMT1A，存在包括PMP22基因在内的1.5 Mb串联重复突变。
PCR-SSCP和PCR-RFLP是CMT基因诊断的前两种筛查方法。PCR-DGGE不适用于Cx32基因的突变分析。点突变必须通过测序进行验证。对于可能的X连锁家系，突变筛查必须从Cx32基因开始。
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