Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L.
- Author:
Ru-xu ZHANG
1
;
Bei-sha TANG
;
Xiao-hong ZI
;
Wei LUO
;
Kun XIA
;
Qian PAN
;
Zheng-mao HU
;
Guo-hua ZHAO
;
Ke GUO
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Charcot-Marie-Tooth Disease; genetics; Chromosomes, Human, Pair 12; genetics; Cloning, Organism; DNA; analysis; DNA Mutational Analysis; Humans; Molecular Sequence Data; Nucleic Acid Amplification Techniques
- From: Chinese Journal of Medical Genetics 2006;23(2):189-191
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSTen 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.
RESULTSEleven 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.
CONCLUSIONTen 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.
