[Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa].
OBJECTIVE
To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Zhang
Xiao-hui
XH
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730 PR China.
Dong
Bing
B
Yan
Wei-yu
WY
Shan
Ming-hua
MH
Li
Yang
Y
D044466:Asian People / Q000235:genetics; D030741:Carbonic Anhydrase IV / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005819:Genetic Markers; D030741:Carbonic Anhydrase IV