Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
OBJECTIVE
To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.


METHODS
A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.


RESULTS
In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.


CONCLUSIONS
The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).
Zhang
Fu-feng
FF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Tang
Bei-sha
BS
Zhao
Guo-hua
GH
Chen
Biao
B
Zhang
Cheng
C
Luo
Wei
W
Liu
Xiao-min
XM
Xia
Kun
K
Cai
Fang
F
Hu
Zheng-mao
ZM
Yan
Xin-xiang
XX
Zhang
Ru-xu
RX
Guo
Peng
P
D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D050888:Heat-Shock Proteins, Small / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
D050888:Heat-Shock Proteins, Small