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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 12
/
DNA
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Doença de Charcot-Marie-Tooth
/
Clonagem de Organismos
/
Técnicas de Amplificação de Ácido Nucleico
/
Genética
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Artigo
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