Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 70-73, 2009.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-287451
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.</p><p><b>METHODS</b>Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.</p><p><b>RESULTS</b>The Lod score of each marker vs adRP was below 1.</p><p><b>CONCLUSION</b>The phenotype of this family may not be caused by mutation of the known disease-causing genes.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Linhagem
/
Fenótipo
/
China
/
Retinose Pigmentar
/
Testes Genéticos
/
Repetições de Microssatélites
/
Povo Asiático
/
Diagnóstico
/
Genes Dominantes
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo