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[A study on localization of an autosomal dominant retinitis pigmentosa gene]
Xiaoye Ma1, Ruili Wei, Jiping Cai
1Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China. maxiaoye@163.net
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).
Conclusion:
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.