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Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 26(1): 70-3, 2009 Feb.
Artículo en Zh | MEDLINE | ID: mdl-19199256

RESUMEN

OBJECTIVE: To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa. METHODS: 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. RESULTS: The Lod score of each marker vs adRP was below 1. CONCLUSION: The phenotype of this family may not be caused by mutation of the known disease-causing genes.


Asunto(s)
Pueblo Asiatico/genética , Genes Dominantes , Pruebas Genéticas , Linaje , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , China , Femenino , Ligamiento Genético , Humanos , Masculino , Repeticiones de Microsatélite/genética , Mutación , Fenotipo , Retinitis Pigmentosa/patología
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