Fine mapping of a pure paroxysmal kinesigenic dyskinesia family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1-5, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-307981
ABSTRACT
<p><b>OBJECTIVE</b>To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.</p><p><b>METHODS</b>Six additional markers flanking the tightly linked markers were chosen in the candidate region resulting from a whole genome-wide scanning and tested by parameter and nonparameter analysis using Linkage and Genehunter softwares to fine map the candidate region.</p><p><b>RESULTS</b>Evidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed. A maximum two-lod score of 2.82 at theta=0 was obtained with D3S3669. Critical recombinants place the PKD gene between D3S1314 and D3S1265.</p><p><b>CONCLUSION</b>A new locus of pure paroxysmal kinesigenic dyskinesia (PKD) is localized within a 10.2 cM interval on 3q28-29, between markers D3S1314 and D3S1265.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Haplótipos
/
Marcadores Genéticos
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Genoma Humano
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Coreia
/
Mapeamento Cromossômico
/
Genômica
/
Povo Asiático
/
Genética
/
Ligação Genética
Limite:
Adolescente
/
Criança
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Criança, pré-escolar
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Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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