• Li-li Dai, Da-wei Sun, Zheng Wang, Song-bin Fu, Shang-zhi Huang, Zhong-yu Zhang, Guang Zeng, and Shao-min Peng.
• Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
• Chin. Med. J. 2009 May 5; 122 (9): 109711011097-101.

BackgroundThe autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP.MethodsA large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.ResultsThe caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction = 0).ConclusionThe affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.

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