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Updated: Aug 15, 2026
Serum and Plasma Copy Number Detection Using Real-time PCR
Published on: December 15, 2017
[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR]
Fu-feng Zhang1, Bei-sha Tang, Yan Shen
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Objective:
To detect the duplication or deletion of peripheral myelin protein 22(PMP22) gene in Chinese patients with Charcot-Marie-Tooth disease(CMT) or hereditary neuropathy with liability to pressure palsies(HNPP) using real-time quantitative polymerase chain reaction.
Methods:
Duplications or deletions of PMP22 gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR.
Results:
Thirty-six of 113 CMT cases had the PMP22 duplication, 4 HNPP cases had the PMP22 deletion. No duplication or deletion was found in 50 normal controls.
Conclusion:
The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.
