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>
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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