Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR.
- Author:
Fu-feng ZHANG
1
;
Bei-sha TANG
;
Yan SHEN
;
Guo-hua ZHAO
;
Kun XIA
;
Yi-qiang ZHAO
;
Biao CHEN
;
Cheng ZHANG
;
Qian PAN
;
Fang CAI
;
Xiao-min LIU
;
Wei LUO
;
Ru-xu ZHANG
;
Peng GUO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Charcot-Marie-Tooth Disease; genetics; Female; Gene Duplication; Humans; Male; Myelin Proteins; genetics; Polymerase Chain Reaction; methods; Sequence Deletion; Young Adult
- From: Chinese Journal of Medical Genetics 2005;22(5):537-540
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSDuplications or deletions of PMP22 gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR.
RESULTSThirty-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.
CONCLUSIONThe PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.
