W Luo1, B Tang, J Xiao. 1. Xiangya Hospital, Central South University, Changsha 410008, China.
Abstract
OBJECTIVE: To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family. METHODS: Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals. RESULTS: Arg15Gln mutation was found in 4 patients and 3 unaffected family members. CONCLUSION: The mutation of Cx32 can also cause CMTXR. Using PCR-SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.
OBJECTIVE: To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family. METHODS: Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals. RESULTS: Arg15Gln mutation was found in 4 patients and 3 unaffected family members. CONCLUSION: The mutation of Cx32 can also cause CMTXR. Using PCR-SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.