[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
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.


CONCLUSIONS
The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.
Zhang
Fu-feng
FF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Tang
Bei-sha
BS
Shen
Yan
Y
Zhao
Guo-hua
GH
Xia
Kun
K
Zhao
Yi-qiang
YQ
Chen
Biao
B
Zhang
Cheng
C
Pan
Qian
Q
Cai
Fang
F
Liu
Xiao-min
XM
Luo
Wei
W
Zhang
Ru-xu
RX
Guo
Peng
P
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D055815:Young Adult
D009185:Myelin Proteins; C073687:PMP22 protein, human