Song Shu-juan, Zhang Yuan-zhi, Chen Biao, Wang Man-jie, Wang Yue-ying, Zhang Yuan-jin, Yan Ming, Zhong Nanbert
Peking University Center of Medical Genetics, Beijing 100083, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2006 Feb 18;38(1):78-9.
To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients.
Twelve exons of the LMNA gene were amplified from genetic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP).
No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected.
The CMT diseases resulted from the mutations of LMNA gene were rare.
为深入研究散发性遗传性运动感觉神经病（CMT）患者，我们在本研究中对32例无亲缘关系的CMT患者进行了LMNA基因分析。
从基因组DNA中扩增LMNA基因的12个外显子。每个外显子的PCR产物通过单链构象多态性（SSCP）进行分析。
未检测到异常的SSCP图谱，提示我们的CMT患者中无突变。
由LMNA基因突变导致的CMT疾病较为罕见。
