Type 2L: Cloning to rule out 10 candidate genes located in chromosome 12q24

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):189-91.

Cloning to rule out 10 candidate genes located in chromosome 12q24

for Charcot-Marie-Tooth disease type 2L.

[Article in Chinese]

Zhang R, Tang B, Zi X, Luo W, Xia K, Pan Q, Hu Z, Zhao G, Guo K.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha, Hunan, 410008 P.R.China.

OBJECTIVE: To clone the disease-causing genes possibly existing in

6.8 cM distance between microsatellite markers D12S1720 and D12S1611

in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L(CMT2L).

METHODS: Ten positional and functional candidate genes were chosen

among all known genes in this locus region by bioinformatics inqury.

Mutation detection was performed by sequencing the exons and intron-

exon junctions of the candidate genes.

RESULTS: Eleven sequence variations, that included 5 heterozygous and

6 homozygous variations, were detected in the exons and flanking

areas of the 10 candidate genes. All the variations showed no co-

segregation with disease phenotype.

CONCLUSION: Ten candidate genes(TAOK3, RAB35, RPLP0, PXN, RNF10,

RHOF, VPS33A, RSN, DENR, RNP24) were ruled out as the disease-causing

gene for CMT2L. Ten single nucleotide polymorphisms (SNP) were

reported for the first time.