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[X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation]
Zhonghua Nei Ke Za Zhi
|November 23, 2001
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.