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Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 670-673, 2007.
Artigo em Chinês | WPRIM | ID: wpr-229848
ABSTRACT
<p><b>OBJECTIVE</b>To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP).</p><p><b>METHODS</b>Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly.</p><p><b>RESULTS</b>Two-point LOD scores were negative with all markers tested except D17S701 (Zmax=2.107, theta=0) and D17S1604 (Zmax=1.806, theta=0). The disease gene locus was confined to RP17 with further genetic linkage and haplotype analysis. Screening all exons including exon-intron boundary, 5oUTR and 3oUTR of carbonic anhydrase 4 (CA4) revealed no mutation in this family.</p><p><b>CONCLUSION</b>The disease-causing gene of one Chinese family with adRP was first mapped to RP17, however no gene mutation of CA4 was detected in this family. Maybe there is a complex CA4 gene mutation in this family or a new disease-causing gene for this family in this locus, further study need to be done.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Haplótipos / Íntrons / Marcadores Genéticos / Retinose Pigmentar / Éxons / Anidrase Carbônica IV / Povo Asiático / Genética / Ligação Genética / Mutação Limite: Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2007 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Haplótipos / Íntrons / Marcadores Genéticos / Retinose Pigmentar / Éxons / Anidrase Carbônica IV / Povo Asiático / Genética / Ligação Genética / Mutação Limite: Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2007 Tipo de documento: Artigo