Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa.
- Author:
Xiao-hui ZHANG
1
;
Bing DONG
;
Wei-yu YAN
;
Ming-hua SHAN
;
Yang LI
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Carbonic Anhydrase IV; genetics; Exons; genetics; Female; Genetic Linkage; genetics; Genetic Markers; genetics; Haplotypes; genetics; Humans; Introns; genetics; Male; Mutation; Retinitis Pigmentosa; genetics
- From: Chinese Journal of Medical Genetics 2007;24(6):670-673
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP).
METHODSGenetic 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.
RESULTSTwo-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.
CONCLUSIONThe 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.
