[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
OBJECTIVE
To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.


METHODS
Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.


RESULTS
A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.


CONCLUSIONS
A533G and A767G of GDAP1 gene were new mutations firstly reported.
Zhang
Ru-xu
RX
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Tang
Bei-sha
BS
Zi
Xiao-hong
XH
Luo
Wei
W
Xia
Kun
K
Pan
Qian
Q
Long
Zhi-gao
ZG
Hu
Zheng-mao
ZM
Li
Xiao-bo
XB
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
C118663:GDAP protein; D009419:Nerve Tissue Proteins