[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].
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.


CONCLUSIONS
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.
Zhang
Ru-xu
RX
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P.R.China.
Tang
Bei-sha
BS
Zi
Xiao-hong
XH
Luo
Wei
W
Xia
Kun
K
Pan
Qian
Q
Hu
Zheng-mao
ZM
Zhao
Guo-hua
GH
Guo
Ke
K
D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D019976:Cloning, Organism; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques
D004247:DNA