GDAP1 gene research in 23 Chinese CMT patients

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Research from Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun

10;21(3):207-210.

Mutation analysis of ganglioside-induced differentiation associated

protein-1 gene in Chinese Charcot-Marie-Tooth disease

Zhang R, Tang B, Zi X, Luo W, Xia K, Pan Q, Long Z, Hu Z, Li X.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha, Hunan, 410008 P. R. China.

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.

CONCLUSION: A533G and A767G of GDAP1 gene were new mutations firstly

reported.