Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 189-191, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-263821
ABSTRACT
<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 12
/
DNA
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Charcot-Marie-Tooth Disease
/
Cloning, Organism
/
Nucleic Acid Amplification Techniques
/
Genetics
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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