[A study on localization of an autosomal dominant retinitis pigmentosa gene].
OBJECTIVE
To report the localization of a gene for an autosomal dominant retinitis pigmentosa (ADRP) family.


METHODS
We studied a large ADRP family, collected 3 - 5 ml of venous blood samples from some family members, and genomic DNA was extracted from the blood. Then two-point linkage analysis between the known markers and the disease locus was performed.


RESULTS
Linkage analysis showed the maximum LOD score reaches 2.732852 at marker D3S1292 (at recombination fraction theta = 0.1).


CONCLUSIONS
Since D3S1292 was localized at 3q21, we roughly localized the disease gene on 3q21. In the mean time, the rhodopsin gene had been reported as linked to 3q21 adjacent to D3S1292, thus we think the disease gene may be the rhodopsin gene.
Ma
Xiaoye
X
Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China. maxiaoye@163.net
Wei
Ruili
R
Cai
Jiping
J
Zhu
Li
L
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
D004247:DNA; D012243:Rhodopsin