机构：[1]北京大学医学遗传中心、北京大学基础医学院医学遗传学系,100083北京大学[2]首都医科大学宣武医院[3]北京大学第三医院北京大学北京大学第三医院[4] Departmental of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.
通讯机构：[1]北京大学医学遗传中心、北京大学基础医学院医学遗传学系,100083[4] Departmental of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
